U.S. flag

An official website of the United States government

NM_057088.3(KRT3):c.1508G>C (p.Arg503Pro) AND Corneal dystrophy, Meesmann, 2

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2005
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000118978.4

Allele description [Variation Report for NM_057088.3(KRT3):c.1508G>C (p.Arg503Pro)]

NM_057088.3(KRT3):c.1508G>C (p.Arg503Pro)

Genes:
LOC126861527:BRD4-independent group 4 enhancer GRCh37_chr12:53184490-53185689 [Gene]
KRT3:keratin 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_057088.3(KRT3):c.1508G>C (p.Arg503Pro)
HGVS:
  • NC_000012.12:g.52791233C>G
  • NG_008350.1:g.9876G>C
  • NM_057088.3:c.1508G>CMANE SELECT
  • NP_476429.2:p.Arg503Pro
  • NC_000012.11:g.53185017C>G
  • NM_057088.2:c.1508G>C
  • P12035:p.Arg503Pro
Protein change:
R503P; ARG503PRO
Links:
UniProtKB: P12035#VAR_031327; OMIM: 148043.0002; dbSNP: rs60410063
NCBI 1000 Genomes Browser:
rs60410063
Molecular consequence:
  • NM_057088.3:c.1508G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Corneal dystrophy, Meesmann, 2
Identifiers:
MONDO: MONDO:0032904; MedGen: C5231495; OMIM: 618767

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000153649OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2005) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.

Chen YT, Tseng SH, Chao SC.

Cornea. 2005 Nov;24(8):928-32.

PubMed [citation]
PMID:
16227835

Details of each submission

From OMIM, SCV000153649.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In affected members of a Taiwanese family with Meesmann corneal dystrophy (MECD2; 618767) in whom no disease-causing mutation was identified in the KRT12 gene, Chen et al. (2005) identified a heterozygous 1508G-C transversion (c.1508G-C, NM_057088) in exon 7 of the KRT3 gene, resulting in a predicted arg503-to-pro (R503P) substitution within the highly conserved helix termination motif of the rod domain 2B. The mutation completely segregated with the disease phenotype in the family. The mutation created a novel restriction site for BstXI, which was absent in the unaffected family members and in 50 controls. The 12-year-old proband presented with a history of foreign body sensation and mild blurred vision for 1 to 2 years in both eyes; following the diagnosis of MECD, another family member was found to be affected.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 26, 2023