UniProtKB/SwissProt variant VAR

Collagen alpha-2(VIII) chain
Gene: COL8A2
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Variant information Variant position:

3
Type of variant:

LB/B
Residue change:

From Glycine (G) to Arginine (R) at position 3 (G3R, p.Gly3Arg).
Physico-chemical properties:

Change from glycine (G) to large size and basic (R)
BLOSUM score:

-2
Other resources:

Variant rs115156902 [ dbSNP | Ensembl ]

Sequence information Variant position:

3
Protein sequence length:

703
Location on the sequence:

ML G TLTPLSSLLLLLLVLVLGCG
Residue conservation:

Human                         MLGTLTPLSSLLLLLLVLVLGCG

Mouse                         MQGALMPLPSLLLLL----LGCG

Sequence annotation in neighborhood:

Type	Positions	Description
Signal peptide	1 – 28

Literature citations
Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
Biswas S.; Munier F.L.; Yardley J.; Hart-Holden N.; Perveen R.; Cousin P.; Sutphin J.E.; Noble B.; Batterbury M.; Kielty C.; Hackett A.; Bonshek R.; Ridgway A.; McLeod D.; Sheffield V.C.; Stone E.M.; Schorderet D.F.; Black G.C.M.;
Hum. Mol. Genet. 10:2415-2423(2001)
Cited for: VARIANTS FECD1 GLN-304; ARG-357; HIS-434; LYS-455 AND LEU-575; VARIANT PPCD2 LYS-455; VARIANTS ARG-3; GLN-155 AND ILE-645;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P25067: Variant p.Gly3Arg