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LMNA lamin A/C [ Homo sapiens (human) ]

Gene ID: 4000, updated on 11-Aug-2014
Official Symbol
LMNAprovided by HGNC
Official Full Name
lamin A/Cprovided by HGNC
Primary source
HGNC:6636
Locus tag
RP11-54H19.1
See related
Ensembl:ENSG00000160789; HPRD:01035; MIM:150330; Vega:OTTHUMG00000013961
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FPL; IDC; LFP; CDDC; EMD2; FPLD; HGPS; LDP1; LMN1; LMNC; PRO1; CDCD1; CMD1A; FPLD2; LMNL1; CMT2B1; LGMD1B
Summary
The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
See LMNA in Epigenomics, MapViewer
Location:
1q22
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (156082546..156140089)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (156052369..156109880)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RAB25, member RAS oncogene family Neighboring gene mex-3 RNA binding family member A Neighboring gene sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A Neighboring gene solute carrier family 25, member 44

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Professional guidelines

Description
Professional guideline
ACMG 2013

The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in LMNA that are pathogenic or expected to be pathogenic.

GuidelinePubMed

Associated conditions

Description Tests
Benign scapuloperoneal muscular dystrophy with cardiomyopathy Compare labs
Charcot-Marie-Tooth disease type 2B1 Compare labs
Congenital muscular dystrophy, LMNA-related Compare labs
Dilated cardiomyopathy 1A Compare labs
Heart-hand syndrome, Slovenian type
MedGen: C1857829 OMIM: 610140 GeneReviews: Not available
Compare labs
Hutchinson-Gilford syndrome Compare labs
Lethal tight skin contracture syndrome
MedGen: C0406585 OMIM: 275210 GeneReviews: Not available
Compare labs
Limb-girdle muscular dystrophy, type 1B Compare labs
Lipodystrophy, familial partial, type 2
MedGen: C1720860 OMIM: 151660 GeneReviews: Not available
Compare labs
Malouf syndrome
MedGen: C0796031 OMIM: 212112 GeneReviews: Not available
Compare labs
Mandibuloacral dysostosis
MedGen: C0432291 OMIM: 248370 GeneReviews: Not available
Compare labs
Primary dilated cardiomyopathy Compare labs

Protein interactions

Protein Gene Interaction Pubs
Rev rev putative interaction based on report of Rev binding to nuclear scaffold and lamin C from mouse cells PubMed
Tat tat Purified HIV-1 Tat has been shown to bind with high affinity to the nuclear matrix from H9 cells and to link viral RNAs to the nuclear matrix PubMed
Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of lamin A/C (LMNA) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
vpr HIV-1 Vpr colocalizes with lamin A/C and induces localized disruptions in the normal nuclear lamin architecture, contributing to the formation of nuclear envelope herniations PubMed

Go to the HIV-1, Human Protein Interaction Database

  • Adipogenesis, organism-specific biosystem (from WikiPathways)
    Adipogenesis, organism-specific biosystemThe different classess of factors involved in adipogenesis are shown. Adipogenesis is the process by which fat cells differentiate from predadipocytes to adipocytes (fat cells). Adipose tissue, compo...
  • Apoptosis, organism-specific biosystem (from REACTOME)
    Apoptosis, organism-specific biosystemApoptosis is a distinct form of cell death that is functionally and morphologically different from necrosis. Nuclear chromatin condensation, cytoplasmic shrinking, dilated endoplasmic reticulum, and ...
  • Apoptotic cleavage of cellular proteins, organism-specific biosystem (from REACTOME)
    Apoptotic cleavage of cellular proteins, organism-specific biosystemApoptotic cell death is achieved by the caspase-mediatedcleavage of various vital proteins. Among caspase targets are proteins such as E-cadherin, Beta-catenin, alpha fodrin, GAS2, FADK, alpha adduc...
  • Apoptotic execution phase, organism-specific biosystem (from REACTOME)
    Apoptotic execution phase, organism-specific biosystemIn the execution phase of apoptosis, effector caspases cleave vital cellular proteins leading to the morphological changes that characterize apoptosis. These changes include destruction of the nucle...
  • Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystem (from WikiPathways)
    Arrhythmogenic right ventricular cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Breakdown of the nuclear lamina, organism-specific biosystem (from REACTOME)
    Breakdown of the nuclear lamina, organism-specific biosystemActivated caspases cleave nuclear lamins causing the irreversible breakdown of the nuclear lamina.
  • Caspase cascade in apoptosis, organism-specific biosystem (from Pathway Interaction Database)
    Caspase cascade in apoptosis, organism-specific biosystem
    Caspase cascade in apoptosis
  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Depolymerisation of the Nuclear Lamina, organism-specific biosystem (from REACTOME)
    Depolymerisation of the Nuclear Lamina, organism-specific biosystemThe nuclear envelope breakdown in mitotic prophase involves depolymerisation of lamin filaments, the main constituents of the nuclear lamina. The nuclear lamina is located at the nuclear face of the ...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • FAS pathway and Stress induction of HSP regulation, organism-specific biosystem (from WikiPathways)
    FAS pathway and Stress induction of HSP regulation, organism-specific biosystemThis pathway describes the Fas induced apoptosis and interplay with Hsp27 in response to stress. More info: [http://www.biocarta.com/pathfiles/h_hsp27Pathway.asp BioCarta].
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • IRE1alpha activates chaperones, organism-specific biosystem (from REACTOME)
    IRE1alpha activates chaperones, organism-specific biosystemIRE1-alpha is a single-pass transmembrane protein that resides in the endoplasmic reticulum (ER) membrane. The C-terminus of IRE1-alpha is located in the cytosol; the N-terminus is located in the ER ...
  • Initiation of Nuclear Envelope Reformation, organism-specific biosystem (from REACTOME)
    Initiation of Nuclear Envelope Reformation, organism-specific biosystemReassembly of the nuclear envelope is initiated at late anaphase/early telophase when BANF1 (BAF) accumulates on the decondensing chromosome mass close to the spindle ('core' region), together with E...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic synapsis, organism-specific biosystem (from REACTOME)
    Meiotic synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
  • Metabolism of proteins, organism-specific biosystem (from REACTOME)
    Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prophase, organism-specific biosystem (from REACTOME)
    Mitotic Prophase, organism-specific biosystemDuring prophase, the chromatin in the nucleus condenses, and the nucleolus disappears. Centrioles begin moving to the opposite poles or sides of the cell. Some of the fibers that extend from the cen...
  • Nuclear Envelope Breakdown, organism-specific biosystem (from REACTOME)
    Nuclear Envelope Breakdown, organism-specific biosystemThe nuclear envelope breakdown (NEBD) happens in late prophase of mitosis and involves disassembly of the nuclear pore complex, depolymerization of the nuclear lamina, and clearance of nuclear envelo...
  • Nuclear Envelope Reassembly, organism-specific biosystem (from REACTOME)
    Nuclear Envelope Reassembly, organism-specific biosystemThe reassembly of the nuclear envelope (NE) around separated sister chromatids begins in late anaphase and is completed in telophase. Nuclear pore complexes (NPCs) reassemble and insert into the refo...
  • Unfolded Protein Response (UPR), organism-specific biosystem (from REACTOME)
    Unfolded Protein Response (UPR), organism-specific biosystemThe Unfolded Protein Response (UPR) is a regulatory system that protects the Endoplasmic Reticulum (ER) from overload. The UPR is provoked by the accumulation of improperly folded protein in the ER d...
  • XBP1(S) activates chaperone genes, organism-specific biosystem (from REACTOME)
    XBP1(S) activates chaperone genes, organism-specific biosystemXbp-1 (S) binds the sequence CCACG in ER Stress Responsive Elements (ERSE, consensus sequence CCAAT (N)9 CCACG) located upstream from many genes. The ubiquitous transcription factor NF-Y, a heterotri...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural molecule activity IEA
Inferred from Electronic Annotation
more info
 
structural molecule activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
activation of signaling protein activity involved in unfolded protein response TAS
Traceable Author Statement
more info
 
apoptotic process TAS
Traceable Author Statement
more info
 
cellular component disassembly involved in execution phase of apoptosis TAS
Traceable Author Statement
more info
 
cellular protein metabolic process TAS
Traceable Author Statement
more info
 
cellular response to hypoxia IEP
Inferred from Expression Pattern
more info
 
endoplasmic reticulum unfolded protein response TAS
Traceable Author Statement
more info
 
establishment or maintenance of microtubule cytoskeleton polarity ISS
Inferred from Sequence or Structural Similarity
more info
 
mitotic cell cycle TAS
Traceable Author Statement
more info
 
mitotic nuclear envelope disassembly TAS
Traceable Author Statement
more info
 
mitotic nuclear envelope reassembly TAS
Traceable Author Statement
more info
 
muscle organ development IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of extrinsic apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
 
negative regulation of release of cytochrome c from mitochondria IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cell aging IDA
Inferred from Direct Assay
more info
 
protein localization to nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
sterol regulatory element binding protein import into nucleus IEA
Inferred from Electronic Annotation
more info
 
ventricular cardiac muscle cell development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
cytosol TAS
Traceable Author Statement
more info
 
intermediate filament TAS
Traceable Author Statement
more info
PubMed 
lamin filament IEA
Inferred from Electronic Annotation
more info
 
lamin filament TAS
Traceable Author Statement
more info
PubMed 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
nuclear envelope TAS
Traceable Author Statement
more info
PubMed 
nuclear lamina TAS
Traceable Author Statement
more info
PubMed 
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
lamin
Names
lamin
70 kDa lamin
prelamin-A/C
lamin A/C-like 1
renal carcinoma antigen NY-REN-32

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008692.2 

    Range
    4974..62517
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_254

mRNA and Protein(s)

  1. NM_001257374.2NP_001244303.1  lamin isoform D

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents use of an alternate promoter and uses an alternate 3' exon structure compared to variant 1. The resulting protein (isoform D) has distinct N- and C-termini and is shorter than isoform A.
    Source sequence(s)
    AI872233, AK295390, AL135927, BC018863, HY027676
    Consensus CDS
    CCDS58038.1
    UniProtKB/Swiss-Prot
    P02545
    Related
    ENSP00000395597, OTTHUMP00000217835, ENST00000448611, OTTHUMT00000359799
    Conserved Domains (3) summary
    pfam00932
    Location:321436
    Blast Score: 209
    LTD; Lamin Tail Domain
    pfam08614
    Location:72252
    Blast Score: 92
    ATG16; Autophagy protein 16 (ATG16)
    cl19113
    Location:190251
    Blast Score: 93
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  2. NM_001282624.1NP_001269553.1  lamin isoform E

    See proteins identical to NP_001269553.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in both UTRs and has multiple differences in the coding region compared to variant 1. This variant encodes isoform E, which is shorter and has distinct N- and C-termini compared to isoform prelamin A.
    Source sequence(s)
    AK097801, BC000511, HY027676
    Consensus CDS
    CCDS72942.1
    UniProtKB/Swiss-Prot
    P02545
    UniProtKB/TrEMBL
    Q5TCI8
    Conserved Domains (3) summary
    pfam00932
    Location:352467
    Blast Score: 209
    LTD; Lamin Tail Domain
    pfam08614
    Location:103283
    Blast Score: 87
    ATG16; Autophagy protein 16 (ATG16)
    cl19113
    Location:221282
    Blast Score: 90
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  3. NM_001282625.1NP_001269554.1  lamin isoform C

    See proteins identical to NP_001269554.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in both UTRs and has multiple differences in the coding region compared to variant 1. This results in a shorter isoform (C) with a distinct C-terminus when compared to isoform prelamin A. Both variants 2 and 6 encode the same isoform (C).
    Source sequence(s)
    AK056143, BC000511, DB270595
    Consensus CDS
    CCDS1131.1
    UniProtKB/Swiss-Prot
    P02545
    Conserved Domains (3) summary
    pfam00038
    Location:30386
    Blast Score: 757
    Filament; Intermediate filament protein
    pfam00932
    Location:433548
    Blast Score: 209
    LTD; Lamin Tail Domain
    cl19113
    Location:302363
    Blast Score: 87
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  4. NM_001282626.1NP_001269555.1  lamin isoform A-delta50

    See proteins identical to NP_001269555.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) uses an alternate 3' exon structure and thus differs in the 3' coding region and 3' UTR, compared to variant 1. This results in a shorter isoform (A-delta50, also known as progerin) with a distinct C-terminus when compared to isoform prelamin A. Although this isoform has been linked to Hutchinson-Gilford progeria syndrome, it is also found in unaffected individuals and thought to be linked to cellular terminal differentiation and physiological aging (see PubMed IDs: 12702809, 16645051, and 18060063).
    Source sequence(s)
    AI872233, AY357727, BU685425, BU732343, DA551594
    Consensus CDS
    CCDS72941.1
    UniProtKB/Swiss-Prot
    P02545
    Conserved Domains (4) summary
    pfam05384
    Location:32148
    Blast Score: 85
    DegS; Sensor protein DegS
    pfam00038
    Location:30386
    Blast Score: 771
    Filament; Intermediate filament protein
    pfam00932
    Location:433548
    Blast Score: 209
    LTD; Lamin Tail Domain
    cl19113
    Location:302363
    Blast Score: 87
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  5. NM_005572.3NP_005563.1  lamin isoform C

    See proteins identical to NP_005563.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, compared to variant 1. This results in a shorter isoform (C) with a distinct C-terminus when compared to isoform prelamin A. Both variants 2 and 6 encode the same isoform (C).
    Source sequence(s)
    AA558657, DA421696, X03445
    Consensus CDS
    CCDS1131.1
    UniProtKB/Swiss-Prot
    P02545
    Related
    ENSP00000355292, ENST00000361308
    Conserved Domains (3) summary
    pfam00038
    Location:30386
    Blast Score: 757
    Filament; Intermediate filament protein
    pfam00932
    Location:433548
    Blast Score: 209
    LTD; Lamin Tail Domain
    cl19113
    Location:302363
    Blast Score: 87
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  6. NM_170707.3NP_733821.1  lamin isoform A

    See proteins identical to NP_733821.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform A.
    Source sequence(s)
    AI872233, AL135927, BC014507, BG822820
    Consensus CDS
    CCDS1129.1
    UniProtKB/Swiss-Prot
    P02545
    Related
    ENSP00000357283, OTTHUMP00000015848, ENST00000368300, OTTHUMT00000039200
    Conserved Domains (4) summary
    pfam05384
    Location:32148
    Blast Score: 87
    DegS; Sensor protein DegS
    pfam00038
    Location:30386
    Blast Score: 787
    Filament; Intermediate filament protein
    pfam00932
    Location:433548
    Blast Score: 209
    LTD; Lamin Tail Domain
    cl19113
    Location:302363
    Blast Score: 90
    ApoLp-III_like; Apolipophorin-III and similar insect proteins
  7. NM_170708.3NP_733822.1  lamin isoform A-delta10

    See proteins identical to NP_733822.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an internal segment of sequence compared to variant 1. The encoded isoform (A delta10), is shorter but has the same C-terminus when compared to isoform A.
    Source sequence(s)
    AF381029, AI872233, AL135927, BC000511, BC014507, BG822820
    UniProtKB/Swiss-Prot
    P02545
    Related
    ENSP00000292304, ENST00000347559
    Conserved Domains (4) summary
    pfam05384
    Location:32148
    Blast Score: 88
    DegS; Sensor protein DegS
    pfam00038
    Location:30386
    Blast Score: 792
    Filament; Intermediate filament protein
    pfam00932
    Location:433536
    Blast Score: 193
    LTD; Lamin Tail Domain
    cl19113
    Location:302363
    Blast Score: 91
    ApoLp-III_like; Apolipophorin-III and similar insect proteins

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    156082546..156140089
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    127414557..127472062
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    157448449..157505990
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)