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NM_000454.5(SOD1):c.253T>G (p.Leu85Val) AND Amyotrophic lateral sclerosis type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 1, 1995
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:
RCV000015898.21

Allele description [Variation Report for NM_000454.5(SOD1):c.253T>G (p.Leu85Val)]

NM_000454.5(SOD1):c.253T>G (p.Leu85Val)

Gene:
SOD1:superoxide dismutase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.11
Genomic location:
Preferred name:
NM_000454.5(SOD1):c.253T>G (p.Leu85Val)
Other names:
L84V
HGVS:
  • NC_000021.9:g.31667271T>G
  • NG_008689.1:g.12650T>G
  • NM_000454.5:c.253T>GMANE SELECT
  • NP_000445.1:p.Leu85Val
  • LRG_652:g.12650T>G
  • NC_000021.8:g.33039584T>G
  • P00441:p.Leu85Val
Protein change:
L85V; LEU84VAL
Links:
UniProtKB: P00441#VAR_007143; OMIM: 147450.0024; dbSNP: rs121912452
NCBI 1000 Genomes Browser:
rs121912452
Molecular consequence:
  • NM_000454.5:c.253T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Amyotrophic lateral sclerosis type 1 (ALS1)
Synonyms:
AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL
Identifiers:
MONDO: MONDO:0007103; MedGen: C1862939; Orphanet: 803; OMIM: 105400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000036165OMIM
no assertion criteria provided
Pathogenic
(May 1, 1995) 		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

Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel Cu/Zn superoxide dismutase mutation.

Aoki M, Abe K, Houi K, Ogasawara M, Matsubara Y, Kobayashi T, Mochio S, Narisawa K, Itoyama Y.

Ann Neurol. 1995 May;37(5):676-9.

PubMed [citation]
PMID:
7755363

Details of each submission

From OMIM, SCV000036165.1

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

Description

In a Japanese family with 4 members affected by ALS (105400) in 3 generations, Aoki et al. (1995) identified a mutation in the SOD1 gene that resulted in a leu84-to-val (L84V) substitution. The enzymatic activity of Cu/Zn SOD of skin fibroblasts was reduced to 75% of control values. The progression of the disease was very rapid, but the age of onset varied with sex and with generation within the family. The proband first noted weakness and atrophy in the left hand at age 38 years. Within 3 months, weakness developed in all 4 extremities and he died of pneumonia 1.5 years after the onset of the disease.

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

Last Updated: Apr 23, 2022