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NM_000371.4(TTR):c.241G>A (p.Glu81Lys) AND Amyloidosis, hereditary systemic 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 16, 1993
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:
RCV000014389.24

Allele description [Variation Report for NM_000371.4(TTR):c.241G>A (p.Glu81Lys)]

NM_000371.4(TTR):c.241G>A (p.Glu81Lys)

Gene:
TTR:transthyretin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_000371.4(TTR):c.241G>A (p.Glu81Lys)
Other names:
E61K
HGVS:
  • NC_000018.10:g.31595160G>A
  • NG_009490.1:g.8394G>A
  • NM_000371.4:c.241G>AMANE SELECT
  • NP_000362.1:p.Glu81Lys
  • LRG_416t1:c.241G>A
  • LRG_416:g.8394G>A
  • NC_000018.9:g.29175123G>A
  • NM_000371.3:c.241G>A
  • P02766:p.Glu81Lys
Protein change:
E81K; GLU61LYS
Links:
UniProtKB: P02766#VAR_007574; OMIM: 176300.0031; dbSNP: rs121918086
NCBI 1000 Genomes Browser:
rs121918086
Molecular consequence:
  • NM_000371.4:c.241G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Amyloidosis, hereditary systemic 1 (AMYLD1)
Synonyms:
Amyloidosis Transthyretin related; Amyloid polyneuropathy transthyretin related; Transthyretin amyloidosis; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0971004; MedGen: C2751492; Orphanet: 85447; Orphanet: 85451; OMIM: 105210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000034638OMIM
no assertion criteria provided
Pathogenic
(Aug 16, 1993) 		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

A basic transthyretin variant (Glu61-->Lys) causes familial amyloidotic polyneuropathy: protein and DNA sequencing and PCR-induced mutation restriction analysis.

Shiomi K, Nakazato M, Matsukura S, Ohnishi A, Hatanaka H, Tsuji S, Murai Y, Kojima M, Kangawa K, Matsuo H.

Biochem Biophys Res Commun. 1993 Aug 16;194(3):1090-6.

PubMed [citation]
PMID:
8352764

Details of each submission

From OMIM, SCV000034638.2

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

Description

In a Japanese family, Shiomi et al. (1993) found that a glu61-to-lys (E61K) mutation in transthyretin was responsible for amyloid polyneuropathy (AMYLD1; 105210). This was said to be the first variant TTR with replacement of an acidic amino acid by a basic amino acid to be found in an amyloid precursor protein of FAP. The proband was a 64-year-old man with watery diarrhea beginning at the age of 62 years and progressive sensory and motor changes in the distal parts of all extremities beginning thereafter. A 66-year-old brother was an asymptomatic carrier of mutation.

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

Last Updated: Aug 25, 2024