Variant position: 125 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 278 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 KRLLDYSLHKERTGSNRFAK GMSETFETLHNLVHKGVKVVM
Mouse KRLLDYSLHKERTGSNRFAK GMSETFETLHNLVHKGVKVVM
Pig KRLLDYSLHKERTGSNRFAK GMSETFETLHNLVHKGVKVVM
Bovine KRLLDYSLHKERTGSNRFAK GMSETFETLHNLVHKGVKVVM
Xenopus laevis SRLLEYNLHKERTGSNRFAK GMSETFQTLHHLVHKGVKVVM
Xenopus tropicalis SRLLEYNLHKERSGSNRFAK GMSETFQTLHHLVHKGVKVVM
Zebrafish SRIMQYNLHKERDGSNRFAK GMSETFSTLHNLVNKGVKVVM
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.
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.
Mutoh H.; Kato M.; Akita T.; Shibata T.; Wakamoto H.; Ikeda H.; Kitaura H.; Aoto K.; Nakashima M.; Wang T.; Ohba C.; Miyatake S.; Miyake N.; Kakita A.; Miyake K.; Fukuda A.; Matsumoto N.; Saitsu H.;
Am. J. Hum. Genet. 102:321-329(2018)
Cited for: INVOLVEMENT IN EIEE60; VARIANT EIEE60 ARG-125;
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.