Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01008: Variant p.Gly125Asp

Antithrombin-III
Gene: SERPINC1
Feedback?
Variant information Variant position: help 125
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Aspartate (D) at position 125 (G125D, p.Gly125Asp).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (D)
BLOSUM score: help -1
Variant description: help In AT3D.


Sequence information Variant position: help 125
Protein sequence length: help 464
Location on the sequence: help NDNIFLSPLSISTAFAMTKL G ACNDTLQQLMEVFKFDTISE
Residue conservation: help 
Human                         NDNIFLSPLSISTAFAMTKLGACNDTLQQLMEVFKFDTISE

Mouse                         NDNIFLSPLSISTAFAMTKLGACNDTLKQLMEVFKFDTISE

Bovine                        NDNIFLSPLSISTAFAMTKLGACNNTLKQLMEVFKFDTISE

Sheep                         NDNIFLSPLSISTAFAMTKLGACNNTLKQLMEVFKFDTISE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 33 – 464 Antithrombin-III
Glycosylation 128 – 128 N-linked (GlcNAc...) asparagine
Disulfide bond 40 – 160
Disulfide bond 53 – 127



Literature citations
Type II antithrombin deficiency caused by a founder mutation Pro73Leu in the Finnish population: clinical picture.
Puurunen M.; Salo P.; Engelbarth S.; Javela K.; Perola M.;
J. Thromb. Haemost. 11:1844-1849(2013)
Cited for: VARIANTS AT3D PHE-53; LEU-73; ASP-125; PRO-170; ASN-218; GLY-248; PRO-293; ARG-401; CYS-425; GLY-438 AND ALA-439; VARIANT GLU-30;
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.