NM_001007792.1(NTRK1):c.1651A>G (p.Met551Val) AND Hereditary insensitivity to pain with anhidrosis

Clinical significance:Pathogenic (Last evaluated: Sep 17, 2013)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000013105.15

Allele description [Variation Report for ]

Gene:
NTRK1:neurotrophic tyrosine kinase, receptor, type 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.1
Genomic location:
Preferred name:
NM_001007792.1(NTRK1):c.1651A>G (p.Met551Val)
HGVS:
  • NC_000001.11:g.156876526A>G
  • NG_007493.1:g.65777A>G
  • NM_001007792.1:c.1651A>G
  • NM_001012331.1:c.1741A>G
  • NM_002529.3:c.1759A>G
  • NP_001007793.1:p.Met551Val
  • NP_001012331.1:p.Met581Val
  • NP_002520.2:p.Met587Val
  • LRG_261t1:c.1651A>G
  • LRG_261t2:c.1741A>G
  • LRG_261t3:c.1759A>G
  • LRG_261:g.65777A>G
  • LRG_261p1:p.Met551Val
  • LRG_261p2:p.Met581Val
  • LRG_261p3:p.Met587Val
  • NC_000001.10:g.156846318A>G
Protein change:
M581V; MET581VAL
Links:
OMIM: 191315.0013; dbSNP: 121964870
NCBI 1000 Genomes Browser:
rs121964870
Molecular consequence:
  • NM_001007792.1:c.1651A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary insensitivity to pain with anhidrosis (CIPA)
Synonyms:
FAMILIAL DYSAUTONOMIA, TYPE II; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY IV; HSAN IV; See all synonyms [MedGen]
Identifiers:
MedGen: C0020074; Orphanet: 642; OMIM: 256800
Age of onset:
Neonatal/infancy

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000033352OMIMPathogenic
(Sep 17, 2013)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhidrosis.

Yotsumoto S, Setoyama M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, Saheki T, Kanzaki T.

J Invest Dermatol. 1999 May;112(5):810-4.

PubMed [citation]
PMID:
10233776

The M581V mutation, associated with a mild form of congenital insensitivity to pain with anhidrosis, causes partial inactivation of the NTRK1 receptor.

Miranda C, Selleri S, Pierotti MA, Greco A.

J Invest Dermatol. 2002 Oct;119(4):978-9. No abstract available.

PubMed [citation]
PMID:
12406349

Details of each submission

From OMIM, SCV000033352.1

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a large family with CIPA (256800) with many consanguineous marriages from a small remote island in the southern part of Japan, Yotsumoto et al. (1999) reported a met581-to-val (M581V) mutation, occurring within subdomain V (beta-5 strand) of the NTRK1 tyrosine kinase domain. The amino acid substitution resulted from an A-to-G transition at nucleotide 1825 in exon 14 of the NTRK1 gene. The 3 affected individuals were adults and displayed milder clinical symptoms compared with other CIPA patients, including normal temperature sensation and a relatively long survival. Two patients were homozygous for the M581V mutation. Miranda et al. (2002) demonstrated that the M581V mutation causes a reduction of activity of the NTRK1 receptor in transfected COS-1 and NIH 3T3 cells.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2014

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