MYPN Chromosome 10
Myopalladin
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What This Gene Does
Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
I-set domain containing
Locus Type
gene with protein product
Location
10q21.3
Ensembl
ENSG00000138347
Associated Conditions (22)
Dilated cardiomyopathy 1KK
Cardiovascular phenotype
MYPN-related myopathy
Primary familial dilated cardiomyopathy
Primary dilated cardiomyopathy
Heart failure
Cardiomyopathy
Familial hypertrophic cardiomyopathy 22
MYPN-related disorder
Primary familial hypertrophic cardiomyopathy
Cap myopathy
Restrictive cardiomyopathy
Long QT syndrome
Hypertrophic cardiomyopathy
Dilated cardiomyopathy 1A
Arrhythmogenic right ventricular cardiomyopathy
See cases
Congenital myopathy
Melanoma
familial restrictive
+2 more conditions
Key Variants
RS1021994218
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1KK, Cardiovascular phenotype, Dilated cardiomyopathy 1KK
Health Risk
RS112016439
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1KK, Cardiovascular phenotype, Dilated cardiomyopathy 1KK
Health Risk
RS112518450
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1KK, MYPN-related myopathy, Cardiovascular phenotype
Health Risk
RS1163308868
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1KK, Cardiovascular phenotype, Dilated cardiomyopathy 1KK
Health Risk
RS1226400049
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1KK, Cardiovascular phenotype, Dilated cardiomyopathy 1KK
Health Risk
RS1271454652
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1KK, Cardiovascular phenotype, Dilated cardiomyopathy 1KK
Health Risk
RS1284303981
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1KK, MYPN-related myopathy, Cardiovascular phenotype
Health Risk
RS1334366122
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1KK, MYPN-related myopathy, Dilated cardiomyopathy 1KK
Health Risk
RS138313730
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1KK, Cardiovascular phenotype, Primary familial dilated cardiomyopathy
Health Risk
RS140148105
Conflicting classifications of pathogenicity
Familial hypertrophic cardiomyopathy 22, Dilated cardiomyopathy 1KK, Primary dilated cardiomyopathy
Health Risk
RS1401491606
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Dilated cardiomyopathy 1KK, MYPN-related myopathy
Health Risk
RS141983653
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1KK, Cardiovascular phenotype, Dilated cardiomyopathy 1KK
Health Risk
All Variants (130)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1187427685 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS1298376008 | Health Risk | Pathogenic | MYPN-related disorder, Dilated cardiomyopathy 1KK, MYPN-related disorder |
| RS199476408 | Health Risk | Pathogenic | Cardiomyopathy, familial restrictive, 4 |
| RS2133995502 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2134169413 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2134198422 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2134204980 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2134278222 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2134300034 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2495461148 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2495467126 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2495590778 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495676595 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495701378 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Cardiovascular phenotype, MYPN-related myopathy |
| RS2495728963 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495735152 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2495738570 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, MYPN-related myopathy, Dilated cardiomyopathy 1KK |
| RS2495790637 | Health Risk | Pathogenic | MYPN-related myopathy, MYPN-related myopathy |
| RS2495791969 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2495796729 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS2495951388 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2495965716 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2495966840 | Health Risk | Pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS772657844 | Health Risk | Pathogenic | Cardiovascular phenotype, Cardiovascular phenotype |
| RS778885362 | Health Risk | Pathogenic | Nemaline myopathy, Nemaline myopathy |
| RS781261060 | Health Risk | Pathogenic | MYPN-related myopathy, Cardiovascular phenotype, MYPN-related myopathy |
| RS1589608098 | Health Risk | Pathogenic/Likely pathogenic | Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK |
| RS2134168183 | Health Risk | Pathogenic/Likely pathogenic | Dilated cardiomyopathy 1KK, MYPN-related myopathy, Dilated cardiomyopathy 1KK |
| RS2495951071 | Health Risk | Pathogenic/Likely pathogenic | MYPN-related disorder, Dilated cardiomyopathy 1KK, MYPN-related disorder |
| RS753094063 | Health Risk | Pathogenic/Likely pathogenic | Cardiovascular phenotype, Dilated cardiomyopathy 1KK, Cardiovascular phenotype |