Variant position: 138 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 624 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 ESGYGSESSLRRHGSMVSLV SGASGYSATSTSSFKKGHSLR
Mouse ESGYGSESSLRRHGSMVSLV SGASGYSATSTSSFKKGHSLR
Bovine ESGYGSESSLRRHGSMVSLV SGASGYSATSTSSFKKGHSLR
Xenopus laevis ESGYGSESSLRRHGSMVSLV SGASSYSATSTSSFKKGHSLR
Xenopus tropicalis ESGYGSESSLRRHGSMVSLV SGASGYSATSTSSFKKGHSLR
Zebrafish ESGYGSESSLRRHGSLLSLT SAASGLSTASASSFKKAYSLQ
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
1 – 624 Collagen type IV alpha-3-binding protein
126 – 126 Phosphoserine
132 – 132 Phosphoserine; by PKD
135 – 135 Phosphoserine
132 – 132 S -> A. Abolishes the phosphorylation. Strongly reduces the interaction with phosphatidylinositol 4-phosphate. Increases the ceramide transfer activity.
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J.; Willemsen M.H.; van Bon B.W.; Kleefstra T.; Yntema H.G.; Kroes T.; Vulto-van Silfhout A.T.; Koolen D.A.; de Vries P.; Gilissen C.; del Rosario M.; Hoischen A.; Scheffer H.; de Vries B.B.; Brunner H.G.; Veltman J.A.; Vissers L.E.;
N. Engl. J. Med. 367:1921-1929(2012)
Cited for: VARIANT CYS-138;
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.