Variant position: 278 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 279 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 PPALDDAFSILDLFLGRWFR SR
Mouse SSALDDPFSILDLLLGRWFR SR
Rat SSALDDPFSILDLLLGRWFR SR
Bovine PPSLDDSSSILDLFLGRWFR SR
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
2 – 279 HCLS1-associated protein X-1
114 – 279 Involved in HCLS1 binding
183 – 279 Required for localization in sarcoplasmic reticulum
184 – 279 Involved in PKD2 binding
270 – 279 Required for ITGB6 binding
125 – 279 Missing. In isoform 4.
265 – 279 Missing. In isoform 6.
No reference for the current variant in UniProtKB/Swiss-Prot.
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.