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UniProtKB/Swiss-Prot Q9H222: Variant p.Met622Val

ATP-binding cassette sub-family G member 5
Gene: ABCG5
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Variant information Variant position: help 622
Type of variant: help LB/B
Residue change: help From Methionine (M) to Valine (V) at position 622 (M622V, p.Met622Val).
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 622
Protein sequence length: help 651
Location on the sequence: help FTQGIQFIEKTCPGATSRFT M NFLILYSFIPALVILGIVVF
Residue conservation: help 
Human                         FTQGIQFIEKT-CP---GATSRFTMNFLILYSFIPALVILGIVVF

Mouse                         ITQGVQFIEKT-CP---GATSRFTANFLILYGFIPALVILG

Rat                           MTQGIQFIEKT-CP---GATSRFTTNFLILYSFIPTLVILG

Slime mold                    IENGVQIAIKYYCPITNGDDFMLTYGFHKFMRYIDIAAIFG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 651 ATP-binding cassette sub-family G member 5
Topological domain 550 – 623 Extracellular
Domain 388 – 645 ABC transmembrane type-2
Helix 620 – 648



Literature citations
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.
Hubacek J.A.; Berge K.E.; Cohen J.C.; Hobbs H.H.;
Hum. Mutat. 18:359-360(2001)
Cited for: VARIANT STSL2 LYS-437; VARIANTS VAL-523; TYR-600; GLU-604 AND VAL-622;
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.