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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q02487: Variant p.Thr340Ala

Desmocollin-2
Gene: DSC2
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Variant information Variant position: help 340
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Alanine (A) at position 340 (T340A, p.Thr340Ala).
Physico-chemical properties: help Change from medium size and polar (T) to small size and hydrophobic (A)
BLOSUM score: help 0
Variant description: help In ARVD11.
Other resources: help


Sequence information Variant position: help 340
Protein sequence length: help 901
Location on the sequence: help QLKIKVQDMDGQYFGLQTTS T CIINIDDVNDHLPTFTRTSY
Residue conservation: help 
Human                         QLKIKVQD---MDGQYFGLQTTSTCIINIDDVNDHLPTFTRTSY

Mouse                         QLLIKVQD---MDGQYFGLHTTAKCIITIEDVNDNLPTFTR

Baker's yeast                 AVEWKINDQFLLNGLILLLILNQG----------------F

Fission yeast                 QMVIPMIG---LAFSHF-----------------------P
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 136 – 901 Desmocollin-2
Topological domain 136 – 694 Extracellular
Domain 244 – 355 Cadherin 2
Beta strand 336 – 346



Literature citations
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 ARVD11 THR-231 AND ALA-340; VARIANT GLN-798;
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.