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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q4L235: Variant p.Pro93Arg

Beta-alanine-activating enzyme
Gene: AASDH
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Variant information Variant position: help 93
Type of variant: help LB/B
Residue change: help From Proline (P) to Arginine (R) at position 93 (P93R, p.Pro93Arg).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to large size and basic (R)
BLOSUM score: help -2
Other resources: help


Sequence information Variant position: help 93
Protein sequence length: help 1098
Location on the sequence: help SWILGILQVPAAYVPIEPDS P PSLSTHFMKKCNLKYILVEK
Residue conservation: help 
Human                         S---------WILGILQVPAAYVPIEPDSPPSLSTHFMKKCNLKYILVEK

Mouse                         S---------WILGILQVPAAYAPIDPDSPPSLSTYFMKKC

Zebrafish                     V---------WIIGILQFPAAYLPLDPASPPQCSLRMINNC

Drosophila                    VTEHTPASSLMILAILNNKCHFFPTDKMMLSQDLYSQMSTA
Sequence annotation in neighborhood: help
TypePositionsDescription
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.