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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08572: Variant p.Glu1123Gly

Collagen alpha-2(IV) chain
Gene: COL4A2
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Variant information Variant position: help 1123
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Glycine (G) at position 1123 (E1123G, p.Glu1123Gly).
Physico-chemical properties: help Change from medium size and acidic (E) to glycine (G)
BLOSUM score: help -2
Variant description: help Risk factor for ICH; results in a significantly decreased extracellular-to-intracellular ratio of COL4A2 and COL4A1 proteins, indicating interference with the proper secretion of both these proteins.
Other resources: help


Sequence information Variant position: help 1123
Protein sequence length: help 1712
Location on the sequence: help PGLKGERGTTGIPGLKGFFG E KGTEGDIGFPGITGVTGVQG
Residue conservation: help 
Human                         PGLKGERGTTGIPGLKGFFGEKGTEGDIGFPGITGVTGVQG

Mouse                         PGLKGERGITGIPGLKGFFGEKGAAGDIGFPGITGMAGAQG

Caenorhabditis elegans        PGLSGAPGLDGQPGVPGIRGDKGQG---GLPGIPGDRGMDG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 184 – 1712 Collagen alpha-2(IV) chain
Region 184 – 1484 Triple-helical region



Literature citations
COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
Jeanne M.; Labelle-Dumais C.; Jorgensen J.; Kauffman W.B.; Mancini G.M.; Favor J.; Valant V.; Greenberg S.M.; Rosand J.; Gould D.B.;
Am. J. Hum. Genet. 90:91-101(2012)
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO ICH; VARIANTS PHE-192; LYS-517; ALA-683; ARG-701; SER-718; GLN-1109; GLY-1123; LYS-1150; ILE-1399 AND THR-1690; CHARACTERIZATION OF VARIANTS GLY-1123; LYS-1150 AND THR-1690;
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.