Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12110: Variant p.Arg843Gln

Collagen alpha-2(VI) chain
Gene: COL6A2
Feedback?
Variant information Variant position: help 843
Type of variant: help LB/B
Residue change: help From Arginine (R) to Glutamine (Q) at position 843 (R843Q, p.Arg843Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 843
Protein sequence length: help 1019
Location on the sequence: help SVAQCTQRPVDIVFLLDGSE R LGEQNFHKARRFVEQVARRL
Residue conservation: help 
Human                         SVAQCTQRPVDIVFLLDGSERLGEQNFHKARRFVEQVARRL

Mouse                         YVAQCTQRPVDIVFLLDGSERLGEQNFHKVRRFVEDVSRRL

Chicken                       AVAQCTQRPVDIVFLLDGSERIGEQNFHRAHHFVEQVAQQL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 21 – 1019 Collagen alpha-2(VI) chain
Domain 833 – 1014 VWFA 3
Region 591 – 1019 Nonhelical region
Alternative sequence 821 – 991 ELSVAQCTQRPVDIVFLLDGSERLGEQNFHKARRFVEQVARRLTLARRDDDPLNARVALLQFGGPGEQQVAFPLSHNLTAIHEALETTQYLNSFSHVGAGVVHAINAIVRSPRGGARRHAELSFVFLTDGVTGNDSLHESAHSMRKQNVVPTVLALGSDVDMDVLTTLSLG -> DAPWPGGEPPVTFLRTEEGPDATFPRTIPLIQQLLNATELTQDPAAYSQLVAVLVYTAERAKFATGVERQDWMELFIDTFKLVHRDIVGDPETALALC. In isoform 2C2A.
Alternative sequence 829 – 1019 Missing. In isoform 2C2A'.



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.