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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y4U1: Variant p.Leu193Pro

Cyanocobalamin reductase / alkylcobalamin dealkylase
Gene: MMACHC
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Variant information Variant position: help 193
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 193 (L193P, p.Leu193Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In MAHCC.
Other resources: help


Sequence information Variant position: help 193
Protein sequence length: help 282
Location on the sequence: help DLPPRKPHDCVPTRADRIAL L EGFNFHWRDWTYRDAVTPQE
Residue conservation: help 
Human                         DLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVTPQE

Mouse                         NLPPRKPPDCVPTRAGRITLLEGFNFHWRDWTYRDAVTPEE

Bovine                        NLPPTKPVDCVPTRADRISLLERFNFHWRDWTYRDAVTPQE

Chicken                       FLEQSAPVDCVSTEEKRTELLELFNFHWQDGRYRDIIEVKE

Zebrafish                     GFQQRDPADCVCTQEERIRLLESFNLRWRDWSYRDIVPAED

Caenorhabditis elegans        EFCEKEPRPILTASEDVRTALEKFNYNWKDSGFRDFGNPTR
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 282 Cyanocobalamin reductase / alkylcobalamin dealkylase
Mutagenesis 206 – 206 R -> Q. Impairs protein folding.
Helix 186 – 198



Literature citations
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis J.P.; Tirone J.C.; Pawelek P.D.; Dore C.; Atkinson J.L.; Watkins D.; Morel C.F.; Fujiwara T.M.; Moras E.; Hosack A.R.; Dunbar G.V.; Antonicka H.; Forgetta V.; Dobson C.M.; Leclerc D.; Gravel R.A.; Shoubridge E.A.; Coulton J.W.; Lepage P.; Rommens J.M.; Morgan K.; Rosenblatt D.S.;
Nat. Genet. 38:93-100(2006)
Cited for: VARIANTS MAHCC ARG-27; PRO-116; ARG-122; HIS-130; ASP-147; ALA-147; ASP-156; CYS-157; GLY-161; GLN-161; SER-189; PRO-193; TRP-206 AND PRO-206; TISSUE SPECIFICITY;
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.