{{Rsnum
|rsid=6890689
|Gene=MYOT
|Chromosome=5
|position=137870871
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.01194
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=LOC101928005,MYOT
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 0.0 | 0.0 | 100.0
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 9.5 | 90.5
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 1.3 | 0.0 | 98.7
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=6890689
|allele=C
|frequency=1
|uid=1103654235211
|type=homozygous_SNP
|hugo=MYOT
|ensembl gene=ENSG00000120729
|ensembl transcript=ENST00000239926
|sift=TOLERATED
|disease=Defects in MYOT are the cause of myotilinopathy (MIM:609200); also known as myofibrillar myopathy. Onset of the disorder is within a mean age of 59 years and is characterized by progressive skeletal muscle weakness greater distally than proximally, tight heel cords, evidence for some patients of hyporeflexia, cardiomyopathy and peripheral neuropathy. Affected muscle exhibits disorganization and streaming of the Z-line, presence of large hyaline structures, excessive accumulation of TTID and other ectopically expressed proteins and prominent congophilic deposits.
}}

{{ neighbor
| rsid = 28937597
| distance = 50
}}

{{GET Evidence
|gene=MYOT
|aa_change=Lys74Gln
|aa_change_short=K74Q
|impact=benign
|qualified_impact=Insufficiently evaluated benign
|inheritance=recessive
|quality_scores=Array
|dbsnp_id=rs6890689
|overall_frequency_n=10601
|overall_frequency_d=10758
|overall_frequency=0.985406
|n_genomes=51
|n_genomes_annotated=0
|n_haplomes=101
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-2
|autoscore=3
|n_web_uneval=1
|summary_short=The A allele is associated with myotilinopathy. It was found in two individuals, one of whom involved weakness of the pectoralis muscles.
}}
{{on chip | Illumina Human 1M}}