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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51570: Variant p.Ile184Met

Galactokinase
Gene: GALK1
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Variant information Variant position: help 184
Type of variant: help LB/B
Residue change: help From Isoleucine (I) to Methionine (M) at position 184 (I184M, p.Ile184Met).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 184
Protein sequence length: help 392
Location on the sequence: help AARAQVCQQAEHSFAGMPCG I MDQFISLMGQKGHALLIDCR
Residue conservation: help 
Human                         AARAQVCQQAEHSFAGMPCGIMDQFISLMGQKGHALLIDCR

                              AARAQVCQQAEHSFAGVPCGIMDQLIALLGQEGHALLIDCR

Mouse                         AARAQVCQRAEHSFAGVPCGIMDQLIALLGQKGYALLIDCR

Bovine                        AARAQVCQRAEHSFAGVPCGIMDQLIALLGQRGHALLIDCR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 392 Galactokinase
Active site 186 – 186 Proton acceptor
Binding site 186 – 186



Literature citations
Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.
Maraini G.; Hejtmancik J.F.; Shiels A.; Mackay D.S.; Aldigeri R.; Jiao X.D.; Williams S.L.; Sperduto R.D.; Reed G.;
Mol. Vis. 9:397-400(2003)
Cited for: VARIANTS MET-184; ASP-274 AND ALA-338;
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.