UniProtKB/SwissProt variant VAR

ATP-binding cassette sub-family C member 8
Gene: ABCC8
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Variant information Variant position:

673
Type of variant:

LB/B
Residue change:

From Aspartate (D) to Asparagine (N) at position 673 (D673N, p.Asp673Asn).
Physico-chemical properties:

Change from medium size and acidic (D) to medium size and polar (N)
BLOSUM score:

1
Other resources:

Variant rs777986828 [ dbSNP | Ensembl ]

Sequence information Variant position:

673
Protein sequence length:

1581
Location on the sequence:

REDCRGLTGPLQSLVPSADG D ADNCCVQIMGGYFTWTPDGI
Residue conservation:

Human                         REDCRGLTGPLQSLVPSADGDADNCCVQIMGGYFTWTPDGI

Rat                           REEVRDLLGPLQRLTPSTDGDADNFCVQIIGGFFTWTPDGI

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

Sequence annotation in neighborhood:

Type	Positions	Description
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;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q09428: Variant p.Asp673Asn