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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96RW7: Variant p.Asp5087Val

Hemicentin-1
Gene: HMCN1
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Variant information Variant position: help 5087
Type of variant: help LB/B
Residue change: help From Aspartate (D) to Valine (V) at position 5087 (D5087V, p.Asp5087Val).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and hydrophobic (V)
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 5087
Protein sequence length: help 5635
Location on the sequence: help DYNQIEETLGFKIHASISKG D RSNQCPSGFTLDSVGPFCAD
Residue conservation: help 
Human                         DYNQIEETLGFKIHASISKGDRSNQCPSGFTLDSVGPFCAD

Mouse                         DYNQLEETLGFKIHASISKGDRSNQCPSGFILDSVGPFCAD
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 22 – 5635 Hemicentin-1
Domain 4871 – 5093 Nidogen G2 beta-barrel
Alternative sequence 1172 – 5635 Missing. In isoform 3.



Literature citations
Analysis of the ARMD1 locus: evidence that a mutation in hemicentin-1 is associated with age-related macular degeneration in a large family.
Schultz D.W.; Klein M.L.; Humpert A.J.; Luzier C.W.; Persun V.; Schain M.; Mahan A.; Runckel C.; Cassera M.; Vittal V.; Doyle T.M.; Martin T.M.; Weleber R.G.; Francis P.J.; Acott T.S.;
Hum. Mol. Genet. 12:3315-3323(2003)
Cited for: VARIANT ARMD1 ARG-5345; VARIANTS VAL-1624; ILE-2327; THR-2418; GLY-2893; TYR-4084; THR-4720 AND VAL-5087; TISSUE SPECIFICITY; ALTERNATIVE SPLICING (ISOFORM 2);
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.