Variant position: 393 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 508 The length of the canonical sequence.
Location on the sequence:
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 VGKNFEDVAFDEKKNVFVEF YAPWCGHCKQLAPIWDKLGET
Mouse VGANFEEVAFDEKKNVFVEF YAPWCGHCKQLAPIWDKLGET
Rat VGKNFEEVAFDEKKNVFVEF YAPWCGHCKQLAPIWDKLGET
Bovine VGKNFEEVAFDEKKNVFVEF YAPWCGHCKQLAPIWDKLGET
Rabbit VGKNFEEVAFDEKKNVFVEF YAPWCGHCKQLAPIWDKLGET
Chicken VGKNFEEVAFDENKNVFVEF YAPWCGHCKQLAPIWDKLGET
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.
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.
Rauch F.; Fahiminiya S.; Majewski J.; Carrot-Zhang J.; Boudko S.; Glorieux F.; Mort J.S.; Baechinger H.P.; Moffatt P.;
Am. J. Hum. Genet. 96:425-431(2015)
Cited for: INVOLVEMENT IN CLCRP1; VARIANT CLCRP1 CYS-393; CHARACTERIZATION OF VARIANT CLCRP1 CYS-393;
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.