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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12110: Variant p.Ser895Arg

Collagen alpha-2(VI) chain
Gene: COL6A2
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Variant information Variant position: help 895
Type of variant: help LB/B
Residue change: help From Serine (S) to Arginine (R) at position 895 (S895R, p.Ser895Arg).
Physico-chemical properties: help Change from small size and polar (S) to large size and basic (R)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 895
Protein sequence length: help 1019
Location on the sequence: help ARVALLQFGGPGEQQVAFPL S HNLTAIHEALETTQYLNSFS
Residue conservation: help 
Human                         ARVALLQFGGPGEQQVAFPLSHNLTAIHEALETTQYLNSFS

Mouse                         ARMALLQYGSQNQQQVAFPLTYNVTTIHEALERATYLNSFS

Chicken                       ARIALLQYGSEREQNVVFPLTYNLTEISNALAQIKYLDSSS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 21 – 1019 Collagen alpha-2(VI) chain
Domain 833 – 1014 VWFA 3
Region 591 – 1019 Nonhelical region
Glycosylation 897 – 897 N-linked (GlcNAc...) asparagine
Alternative sequence 821 – 991 ELSVAQCTQRPVDIVFLLDGSERLGEQNFHKARRFVEQVARRLTLARRDDDPLNARVALLQFGGPGEQQVAFPLSHNLTAIHEALETTQYLNSFSHVGAGVVHAINAIVRSPRGGARRHAELSFVFLTDGVTGNDSLHESAHSMRKQNVVPTVLALGSDVDMDVLTTLSLG -> DAPWPGGEPPVTFLRTEEGPDATFPRTIPLIQQLLNATELTQDPAAYSQLVAVLVYTAERAKFATGVERQDWMELFIDTFKLVHRDIVGDPETALALC. In isoform 2C2A.
Alternative sequence 829 – 1019 Missing. In isoform 2C2A'.



Literature citations
Molecular consequences of dominant Bethlem myopathy collagen VI mutations.
Baker N.L.; Moergelin M.; Pace R.A.; Peat R.A.; Adams N.E.; Gardner R.J.; Rowland L.P.; Miller G.; De Jonghe P.; Ceulemans B.; Hannibal M.C.; Edwards M.; Thompson E.M.; Jacobson R.; Quinlivan R.C.M.; Aftimos S.; Kornberg A.J.; North K.N.; Bateman J.F.; Lamande S.R.;
Ann. Neurol. 62:390-405(2007)
Cited for: VARIANT BTHLM1B LEU-932; VARIANTS ASN-227; ASN-399; HIS-680 AND ARG-895;
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.