NM_002529.4(NTRK1):c.1550G>A (p.Gly517Glu) AND Hereditary insensitivity to pain with anhidrosis

Clinical significance:Pathogenic (Last evaluated: Oct 31, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000148946.5

Allele description [Variation Report for NM_002529.4(NTRK1):c.1550G>A (p.Gly517Glu)]

NM_002529.4(NTRK1):c.1550G>A (p.Gly517Glu)

Gene:
NTRK1:neurotrophic receptor tyrosine kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.1
Genomic location:
Preferred name:
NM_002529.4(NTRK1):c.1550G>A (p.Gly517Glu)
HGVS:
  • NC_000001.11:g.156876128G>A
  • NG_007493.1:g.65379G>A
  • NM_001007792.1:c.1442G>A
  • NM_001012331.2:c.1532G>A
  • NM_002529.3:c.1550G>A
  • NM_002529.4:c.1550G>AMANE SELECT
  • NP_001007793.1:p.Gly481Glu
  • NP_001012331.1:p.Gly511Glu
  • NP_002520.2:p.Gly517Glu
  • NP_002520.2:p.Gly517Glu
  • LRG_261t1:c.1442G>A
  • LRG_261t3:c.1550G>A
  • LRG_261:g.65379G>A
  • LRG_261p1:p.Gly481Glu
  • LRG_261p3:p.Gly517Glu
  • NC_000001.10:g.156845920G>A
  • P04629:p.Gly517Glu
Protein change:
G511E; GLY517GLU
Links:
UniProtKB: P04629#VAR_077472; OMIM: 191315.0015; dbSNP: rs606231467
NCBI 1000 Genomes Browser:
rs606231467
Molecular consequence:
  • NM_001007792.1:c.1442G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001012331.2:c.1532G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002529.3:c.1550G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002529.4:c.1550G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hereditary insensitivity to pain with anhidrosis (CIPA)
Synonyms:
FAMILIAL DYSAUTONOMIA, TYPE II; Insensitivity to pain, congenital, with anhidrosis; Neuropathy, congenital sensory, with anhidrosis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009746; MedGen: C0020074; Orphanet: 642; OMIM: 256800

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000195863OMIMno assertion criteria providedPathogenic
(Oct 31, 2014)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Innate immunity. A Spaetzle-like role for nerve growth factor β in vertebrate immunity to Staphylococcus aureus.

Hepburn L, Prajsnar TK, Klapholz C, Moreno P, Loynes CA, Ogryzko NV, Brown K, Schiebler M, Hegyi K, Antrobus R, Hammond KL, Connolly J, Ochoa B, Bryant C, Otto M, Surewaard B, Seneviratne SL, Grogono DM, Cachat J, Ny T, Kaser A, Török ME, et al.

Science. 2014 Oct 31;346(6209):641-646. doi: 10.1126/science.1258705.

PubMed [citation]
PMID:
25359976
PMCID:
PMC4255479

Details of each submission

From OMIM, SCV000195863.2

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

Description

In affected members of a Caucasian family with HSAN4 (CIPA; 256800), Hepburn et al. (2014) identified compound heterozygous mutations in the NTRK1 gene: a c.1550G-A transition, resulting in a gly517-to-glu (G517E) substitution, and an A-to-T transversion in intron 6 (c.717+4A-T; 191315.0016), resulting in a splicing defect. Hepburn et al. (2014) found that the G517E mutation was associated with reduced calcium signaling following stimulation with NGFB (162030).

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

Last Updated: Oct 25, 2021

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