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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12110: Variant p.Arg377Cys

Collagen alpha-2(VI) chain
Gene: COL6A2
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Variant information Variant position: help 377
Type of variant: help LB/B
Residue change: help From Arginine (R) to Cysteine (C) at position 377 (R377C, p.Arg377Cys).
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 377
Protein sequence length: help 1019
Location on the sequence: help PGEAGSPGERGDQGGKGDPG R PGRRGPPGEIGAKGSKGYQG
Residue conservation: help 
Human                         PGEAGSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGYQG

Mouse                         PGEAGSPGERGDQGAKGDSGRPGRRGPPGDPGDKGSKGYQG

Chicken                       PGDAGDQGERGDEGMKGDPGRPGRSGPPGPPGEKGSPGIPG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 21 – 1019 Collagen alpha-2(VI) chain
Region 257 – 590 Triple-helical region
Region 257 – 588 Disordered
Compositional bias 365 – 377 Basic and acidic residues



Literature citations
An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.
Ackerman C.; Locke A.E.; Feingold E.; Reshey B.; Espana K.; Thusberg J.; Mooney S.; Bean L.J.; Dooley K.J.; Cua C.L.; Reeves R.H.; Sherman S.L.; Maslen C.L.;
Am. J. Hum. Genet. 91:646-659(2012)
Cited for: VARIANTS LYS-106; CYS-377; ASN-446; MET-728; GLN-843; GLN-853 AND CYS-1010;
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.