Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96HD1: Variant p.Cys262Arg

Protein disulfide isomerase CRELD1
Gene: CRELD1
Feedback?
Variant information Variant position: help 262 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 Cysteine (C) to Arginine (R) at position 262 (C262R, p.Cys262Arg). 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 medium size and polar (C) to large size and basic (R) 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 JELANS; likely pathogenic. Any additional useful information about the variant.


Sequence information Variant position: help 262 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 KCVDIDECGTEGANCGADQF C VNTEGSYECRDCAKACLGCM 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                         KCVDIDECGTEGANCGADQFCVNTEGSYECRDCAKACLGCM

Mouse                         KCVDIDECGTEQATCGADQFCVNTEGSYECRDCAKACLGCM

Rat                           KCVDIDECGTEQATCGAAQFCVNTEGSYECRDCAKACLGCM

Bovine                        KCVDIDECGTERASCGADQFCVNTEGSYECRDCAKACLGCM

Xenopus tropicalis            KCIDIDECGTEKDHCKSNQFCFNTDGSYECRECDKSCIGCM

Caenorhabditis elegans        GCADVNECQNESA----------------------------
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



Literature citations
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L.; Mis E.K.; McWalter K.; Donkervoort S.; Brodsky N.N.; Carpier J.M.; Ji W.; Ionita C.; Roy B.; Morrow J.S.; Darbinyan A.; Iyer K.; Aul R.B.; Banka S.; Chao K.R.; Cobbold L.; Cohen S.; Custodio H.M.; Drummond-Borg M.; Elmslie F.; Finanger E.; Hainline B.E.; Helbig I.; Hewson S.; Hu Y.; Jackson A.; Josifova D.; Konstantino M.; Leach M.E.; Mak B.; McCormick D.; McGee E.; Nelson S.; Nguyen J.; Nugent K.; Ortega L.; Goodkin H.P.; Roeder E.; Roy S.; Sapp K.; Saade D.; Sisodiya S.M.; Stals K.; Towner S.; Wilson W.; Khokha M.K.; Boennemann C.G.; Lucas C.L.; Lakhani S.A.;
Genet. Med. 26:101023-101023(2024)
Cited for: INVOLVEMENT IN JELANS; VARIANTS JELANS TYR-192; ARG-262; VAL-369; MET-380; ASN-386 AND PRO-391;
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.