UniProtKB/SwissProt variant VAR

Protein disulfide isomerase CRELD1
Gene: CRELD1
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Variant information Variant position:

329
Type of variant:

LP/P [Disclaimer]
Residue change:

From Arginine (R) to Cysteine (C) at position 329 (R329C, p.Arg329Cys).
Physico-chemical properties:

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

-3
Variant description:

In AVSD2; associated with disease susceptibility.
Other resources:

Variant rs28942091 [ dbSNP | Ensembl ]

Sequence information Variant position:

329
Protein sequence length:

420
Location on the sequence:

CETEVCPGENKQCENTEGGY R CICAEGYKQMEGICVKEQIP
Residue conservation:

Human                         CETEV--CPGENKQCENTEGGYRCICAEGYKQMEGICVKEQIP

Mouse                         CETVV--CPGENEKCENTEGGYRCVCAEGYRQEDGICVKEQ

Rat                           CETVV--CPGENEQCENTEGSYRCVCAEGFRQEDGICVKEQ

Bovine                        CETAV--CPGENQQCENTEGSYRCICADGYKQMEGICVKDQ

Xenopus tropicalis            CDSELPKCKGSHEECVNTEGSFTCVCEKDYSRIDGMCRPDS

Caenorhabditis elegans        -------CTKEHEICVNTVGSFKCECKEGYKKDDEQNCQFD

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	30 – 420	Protein disulfide isomerase CRELD1
Topological domain	30 – 362	Extracellular
Domain	305 – 344	EGF-like 2; calcium-binding
Disulfide bond	314 – 330

Literature citations
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects.
Robinson S.W.; Morris C.D.; Goldmuntz E.; Reller M.D.; Jones M.A.; Steiner R.D.; Maslen C.L.;
Am. J. Hum. Genet. 72:1047-1052(2003)
Cited for: VARIANTS AVSD2 HIS-107; ILE-311 AND CYS-329;

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 Q96HD1: Variant p.Arg329Cys