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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86UK0: Variant p.Gly1251Asp

Glucosylceramide transporter ABCA12
Gene: ABCA12
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Variant information Variant position: help 1251
Type of variant: help LB/B
Residue change: help From Glycine (G) to Aspartate (D) at position 1251 (G1251D, p.Gly1251Asp).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (D)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 1251
Protein sequence length: help 2595
Location on the sequence: help IGLQWENMYTSPVQDDTTSF G WLCCLILADSFIYFLIAWYV
Residue conservation: help 
Human                         IGLQWENMYTSPVQDDTTSFGWLCCLILADSFIYFLIAWYV

Mouse                         VGLQWENMYKSPVQDDTTSFGWLCCLILADSFIYFFIAWYV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2595 Glucosylceramide transporter ABCA12
Transmembrane 1250 – 1270 Helical



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.