UniProtKB/SwissProt variant VAR

Coagulation factor XII
Gene: F12
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Variant information Variant position:

328
Type of variant:

LP/P [Disclaimer]
Residue change:

From Threonine (T) to Arginine (R) at position 328 (T328R, p.Thr328Arg).
Physico-chemical properties:

Change from medium size and polar (T) to large size and basic (R)
BLOSUM score:

-1
Variant description:

In HAE3.
Other resources:

Variant rs118204456 [ dbSNP | Ensembl ]

Sequence information Variant position:

328
Protein sequence length:

615
Location on the sequence:

SPRLHVPLMPAQPAPPKPQP T TRTPPQSQTPGALPAKREQP
Residue conservation:

Human                         SPRLHVPLMPAQPAPPKPQPTTRTPPQSQTPG-ALPAKREQP

Mouse                         PLVVPESQEESPSQAPSLSHAPNDSTDHQTS----------

Rat                           SPVSPESHDMLKPRPPILQSSPRDSTRNQNV----------

Pig                           PTQSPSEHQDSPLLSREPQPTTQTPSQNLTSAWCAPPEQRG

Bovine                        PLPSPSALQ-------KPESTTQTPLPSLTSGWCSPT----

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	20 – 372	Coagulation factor XIIa heavy chain
Region	298 – 359	Disordered
Glycosylation	308 – 308	O-linked (GalNAc...) serine
Glycosylation	328 – 328	O-linked (GalNAc...) threonine
Glycosylation	329 – 329	O-linked (GalNAc...) threonine
Glycosylation	337 – 337	O-linked (GalNAc...) threonine

Literature citations
Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor.
Dewald G.; Bork K.;
Biochem. Biophys. Res. Commun. 343:1286-1289(2006)
Cited for: VARIANTS HAE3 LYS-328 AND ARG-328;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00748: Variant p.Thr328Arg