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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q09428: Variant p.Asp673Asn

ATP-binding cassette sub-family C member 8
Gene: ABCC8
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Variant information Variant position: help 673
Type of variant: help LB/B
Residue change: help From Aspartate (D) to Asparagine (N) at position 673 (D673N, p.Asp673Asn).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and polar (N)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 673
Protein sequence length: help 1581
Location on the sequence: help REDCRGLTGPLQSLVPSADG D ADNCCVQIMGGYFTWTPDGI
Residue conservation: help
Human                         REDCRGLTGPLQSLVPSADGDADNCCVQIMGGYFTWTPDGI

Rat                           REEVRDLLGPLQRLTPSTDGDADNFCVQIIGGFFTWTPDGI

Slime mold                    ----------------------DNATLE-------WEPNK-

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1581 ATP-binding cassette sub-family C member 8
Topological domain 593 – 1012 Cytoplasmic
Binding site 688 – 688
Alternative sequence 51 – 1581 Missing. In isoform 3.



Literature citations
Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene.
Hansen T.; Echwald S.M.; Hansen L.; Moeller A.M.; Almind K.; Clausen J.O.; Urhammer S.A.; Inoue H.; Ferrer J.; Bryan J.; Aguilar-Bryan L.; Permutt M.A.; Pedersen O.;
Diabetes 47:598-605(1998)
Cited for: VARIANTS ASN-673 AND SER-1369;
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.