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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01008: Variant p.Lys146Glu

Antithrombin-III
Gene: SERPINC1
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Variant information Variant position: help 146
Type of variant: help LP/P [Disclaimer]
Residue change: help From Lysine (K) to Glutamate (E) at position 146 (K146E, p.Lys146Glu).
Physico-chemical properties: help Change from large size and basic (K) to medium size and acidic (E)
BLOSUM score: help 1
Variant description: help In AT3D; Dreux; complete loss af heparin binding.
Other resources: help


Sequence information Variant position: help 146
Protein sequence length: help 464
Location on the sequence: help ACNDTLQQLMEVFKFDTISE K TSDQIHFFFAKLNCRLYRKA
Residue conservation: help
Human                         ACNDTLQQLMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKA

Mouse                         ACNDTLKQLMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKA

Bovine                        ACNNTLKQLMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKA

Sheep                         ACNNTLKQLMEVFKFDTISEKTSDQIHFFFAKLNCRLYRKA

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 33 – 464 Antithrombin-III
Binding site 161 – 161
Glycosylation 128 – 128 N-linked (GlcNAc...) asparagine
Disulfide bond 40 – 160
Helix 145 – 149



Literature citations
Antithrombin 'DREUX' (Lys 114Glu): a variant with complete loss of heparin affinity.
Mushunje A.; Zhou A.; Huntington J.A.; Conard J.; Carrell R.W.;
Thromb. Haemost. 88:436-443(2002)
Cited for: VARIANT AT3D GLU-146;
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.