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UniProtKB/Swiss-Prot Q96HD1: Variant p.Arg329Cys

Protein disulfide isomerase CRELD1
Gene: CRELD1
Variant information

Variant position:  329
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Cysteine (C) at position 329 (R329C, p.Arg329Cys).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Atrioventricular septal defect 2 (AVSD2) [MIM:606217]: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction. {ECO:0000269|PubMed:12632326, ECO:0000269|PubMed:15857420}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In AVSD2; associated with disease susceptibility.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  329
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  420
The length of the canonical sequence.

Location on the sequence:   CETEVCPGENKQCENTEGGY  R CICAEGYKQMEGICVKEQIP
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         CETEVCPGENKQCENTEGGYRCICAEGYKQMEGICVKEQIP

Mouse                         CETVVCPGENEKCENTEGGYRCVCAEGYRQEDGICVKEQVP

Rat                           CETVVCPGENEQCENTEGSYRCVCAEGFRQEDGICVKEQIP

Bovine                        CETAVCPGENQQCENTEGSYRCICADGYKQMEGICVKDQIP

Caenorhabditis elegans        CQFDVEASPDRPFMPIDQQLKLIA-----------------

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
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.