MosaicBase

Exon or Intron	NA
Position in protein	NA
Amino acid changes in protein	NA > NA
Position in cDNA	NA
Changes in cDNA	NA > NA
mRNA accession	NA
mRNA length	NA
Reference length	146364022

MAF in gnomAD genome (version 2.0.1)	0
EIGEN score	-0.2585
CADD Raw score (version 1.3)	-0.175307 (Deleterious)
FATHMM raw prediction score	0.10931 (Tolerated)
Deleterious probability by DeFine	0.1232 (Neutral)

Entrez Gene ID	9172 (NCBI Gene)
Official Gene Symbol	MYOM2 (GeneCards)
Number of variants in MYOM2 in this database	12 (view all the variants)
Full name	myomesin 2
Band	8p23.3
Other IDs	Vega: OTTHUMG00000129175 OMIM: 603509 HGNC: HGNC:7614 Ensembl: ENSG00000036448
Other names	TTNAP
Summary	The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]

Pubmed ID	29217584
Title	Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal	Science
Publication date	2018.02
Disease	Cockayne syndrome Xeroderma Pigmentosum
Number of cases	Male cases: 3; Female cases: 6; cases of unknown sex: 15;