Sequence information
Variant position: 93 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1098 The length of the canonical sequence.
Location on the sequence:
SWILGILQVPAAYVPIEPDS
P PSLSTHFMKKCNLKYILVEK
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 SWILGILQVPAAYVPIEPDSP PSLSTHFMKKCNLKYILVEK
Mouse SWILGILQVPAAYAPIDPDSP PSLSTYFMKKCDLKYVLVEK
Zebrafish VWIIGILQFPAAYLPLDPASP PQCSLRMINNCRLSFCLIQN
Drosophila -MILAILNNKCHFFPTDKMML SQDLYSQMSTAGVDYLVANK
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
Chain
1 – 1098
Beta-alanine-activating enzyme
Alternative sequence
1 – 100
Missing. In isoform 2.
Literature citations
Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
Zhang Q.-H.; Ye M.; Wu X.-Y.; Ren S.-X.; Zhao M.; Zhao C.-J.; Fu G.; Shen Y.; Fan H.-Y.; Lu G.; Zhong M.; Xu X.-R.; Han Z.-G.; Zhang J.-W.; Tao J.; Huang Q.-H.; Zhou J.; Hu G.-X.; Gu J.; Chen S.-J.; Chen Z.;
Genome Res. 10:1546-1560(2000)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-164; VARIANTS VAL-61 AND ARG-93;
Disclaimer:
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.