Sequence information
Variant position: 107 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:
ETRLVEVLEGVCSKSDFECH
R LLELSEELVESWWFHKQQEA
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 ETRLVEVLEGVCSKS--------------DFECHR LLELSEELVESWWFHKQQEA
Mouse ETRLVEVLEGVCSRS--------------DFECHR LLELSE
Rat ETRLVEVLEGVCSKS--------------DFECHR LLELSE
Bovine ETRLVEVLEGVCSKS--------------DFECHR LLELSE
Caenorhabditis elegans ETRLIEVLEGVCKKSSLPNMDNFMGIAEIEFKCST QLEKHE
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.
Type Positions Description
Chain
30 – 420
Protein disulfide isomerase CRELD1
Topological domain
30 – 362
Extracellular
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.