Variant position: 130 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 307 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 VQVESVNLQVATYSKFQPQS PDFLDITNPKAVLENALRNFA
Mouse VQVESVNLQVATYSKFQPQS PDFLDITNPKAVLENALRNFA
Rat VQVESVNLQVATYSKFQPQS PDFLDITNPKAVLENALRNFA
Caenorhabditis elegans IRIESATLPKATFAKLKPMS LEFLNITNPKAVLEVELRKYA
Drosophila LNIESVSLPVATFSKFQPHS TDFLDITNPKAVLENALRNFA
Slime mold IDIKNATLAKGTFVKIQPRT SNFIDISNPKAVLENSLRKFA
Baker's yeast LQISSTDVPLGQFVKLEPQS VDFLDISDPKAVLENVLRNFS
Fission yeast VRVINTDIAQGSYVKLQPQS VNFLDITDHRAVLENALRNFS
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 – 307 Ubiquitin recognition factor in ER-associated degradation protein 1
129 – 129 Phosphoserine
130 – 134
UFD1L, a developmentally expressed ubiquitination gene, is deleted in CATCH 22 syndrome.
Pizzuti A.; Novelli G.; Ratti A.; Amati F.; Mari A.; Calabrese G.; Nicolis S.; Silani V.; Marino B.; Scarlato G.; Ottolenghi S.; Dallapiccola B.;
Hum. Mol. Genet. 6:259-265(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT); VARIANT ALA-130;
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.