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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15924: Variant p.Arg1537Cys

Desmoplakin
Gene: DSP
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Variant information Variant position: help 1537
Type of variant: help LB/B
Residue change: help From Arginine (R) to Cysteine (C) at position 1537 (R1537C, p.Arg1537Cys).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (C)
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 1537
Protein sequence length: help 2871
Location on the sequence: help ANSSATETINKLKVQEQELT R LRIDYERVSQERTVKDQDIT
Residue conservation: help 
Human                         ANSSATETINKLKVQEQELTRLRIDYERVSQERTVKDQDIT

Mouse                         ANNSATEAMSKLKVQEQELTRLRIDYERVSQERTVKDQDIT

Rat                           ANNSATEAMSKLKVQEQELTRLRIDYERVSQERTVKDQDIT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2871 Desmoplakin
Region 1057 – 1945 Central fibrous rod domain
Coiled coil 1018 – 1945
Alternative sequence 1195 – 1793 Missing. In isoform DPII.
Alternative sequence 1351 – 1793 Missing. In isoform DSPIa.



Literature citations
Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
den Haan A.D.; Tan B.Y.; Zikusoka M.N.; Llado L.I.; Jain R.; Daly A.; Tichnell C.; James C.; Amat-Alarcon N.; Abraham T.; Russell S.D.; Bluemke D.A.; Calkins H.; Dalal D.; Judge D.P.;
Circ. Cardiovasc. Genet. 2:428-435(2009)
Cited for: VARIANTS ARVD8 ARG-299; LYS-1255 AND ILE-1775; VARIANTS PHE-305; VAL-1505; CYS-1512; LYS-1526; CYS-1537 AND GLN-1738; Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Barahona-Dussault C.; Benito B.; Campuzano O.; Iglesias A.; Leung T.L.; Robb L.; Talajic M.; Brugada R.;
Clin. Genet. 77:37-48(2010)
Cited for: VARIANTS PHE-305; CYS-1512; LYS-1526; CYS-1537; CYS-1537; GLN-1738 AND VAL-1833;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.