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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96HD1: Variant p.Arg329Cys

Protein disulfide isomerase CRELD1
Gene: CRELD1
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Variant information Variant position: help 329 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help 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: help 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: help -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
Variant description: help In AVSD2; associated with disease susceptibility. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 329 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 420 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         CETEV--CPGENKQCENTEGGYRCICAEGYKQMEGICVKEQIP

Mouse                         CETVV--CPGENEKCENTEGGYRCVCAEGYRQEDGICVKEQ

Rat                           CETVV--CPGENEQCENTEGSYRCVCAEGFRQEDGICVKEQ

Bovine                        CETAV--CPGENQQCENTEGSYRCICADGYKQMEGICVKDQ

Xenopus tropicalis            CDSELPKCKGSHEECVNTEGSFTCVCEKDYSRIDGMCRPDS

Caenorhabditis elegans        -------CTKEHEICVNTVGSFKCECKEGYKKDDEQNCQFD
Sequence annotation in neighborhood: help 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.