Overview

Variant ID 1450
Entrez Gene ID 5602
Gene MAPK10 (GeneCards)
Location hg19 4:86988964-86988964
hg38 4:86067811-86067811
Disease Multiple Sclerosis (view all the variants in this disease)
Method sequencing
Mutation(HGVS format) NC_000004.11:g.86988964_86988964 del (Genome Assembly: GRCh37)

Other information

Exon or Intron Exon
Position in protein 316
Amino acid changes in protein S > F
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NM_001318067.1
mRNA length 6466
Reference length 191154276

Annotations and predictions

Deleterious probability by DeFine 0.9161 (Deleterious)
Entrez Gene ID 5602 (NCBI Gene)
Official Gene Symbol MAPK10 (GeneCards)
Number of variants in MAPK10 in this database 11 (view all the variants)
Full name mitogen-activated protein kinase 10
Band 4q21.3
Other IDs Vega: OTTHUMG00000130604
OMIM: 602897
HGNC: HGNC:6872
Ensembl: ENSG00000109339
Other names JNK3, JNK3A, PRKM10, SAPK1b, p493F12, p54bSAPK
Summary The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as integration points for multiple biochemical signals, and thus are involved in a wide variety of cellular processes, such as proliferation, differentiation, transcription regulation and development. This kinase is specifically expressed in a subset of neurons in the nervous system, and is activated by threonine and tyrosine phosphorylation. Targeted deletion of this gene in mice suggests that it may have a role in stress-induced neuronal apoptosis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. A recent study provided evidence for translational readthrough in this gene, and expression of an additional C-terminally extended isoform via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Dec 2017]

Individual #1

Individual ID 27932211.10 (view all the variants in this individual)
Pubmed ID 27932211
Whose mosaic mutation Male Patient  
Origin of mosaic mutation in patients de novo
Phenotype 3  
Disease Multiple Sclerosis (view all the variants in this disease)
OMIM ID 126200

Publication #1: 27932211

Pubmed ID 27932211
Title A novel class of somatic mutations in blood detected preferentially in CD8+ cells.
Journal Clinical Immunology
Publication date 2017.02
Disease Multiple Sclerosis;neurological autoimmune disease
Number of cases Male cases: 4; Female cases: 8;