Variant position: 174 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 750 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 RGDVGMAGVAIDTVEDTKIL FDGIPLEKMSVSMTMNGAVIP
Mouse RGDVGMAGVAIDTVEDTKIL FDGIPLEKMSVSMTMNGAVIP
Pig HGDVGMAGVAIDTVEDTKIL FDGIPLEKMSVSMTMNGAVIP
Bovine RGDVGMAGVAIDTVEDTKIL FDGIPLEKMSVSMTMNGAVIP
Caenorhabditis elegans FGDVGMAGVAVDSVEDMRQL FDGINLEKMSVSMTMNGAVVP
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
33 – 750 Methylmalonyl-CoA mutase, mitochondrial
174 – 176
mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation.
Fuchshuber A.; Mucha B.; Baumgartner E.R.; Vollmer M.; Hildebrandt F.;
Hum. Mutat. 16:179-179(2000)
Cited for: VARIANTS MMAM VAL-137; SER-174; ARG-203; HIS-218; PRO-535 AND ARG-627;
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype.
Worgan L.C.; Niles K.; Tirone J.C.; Hofmann A.; Verner A.; Sammak A.; Kucic T.; Lepage P.; Rosenblatt D.S.;
Hum. Mutat. 27:31-43(2006)
Cited for: VARIANTS MMAM LEU-86; GLU-87; HIS-93; ARG-94; VAL-94; ARG-95; ARG-105; CYS-108; GLY-108; HIS-108; SER-145; SER-174; VAL-186; LYS-189; GLU-191; GLU-197; ARG-203; CYS-215; SER-215; HIS-218; TYR-219; GLN-228; ILE-230; ASN-231; ASN-262; TYR-265; SER-281; GLU-291; SER-305; PHE-306; VAL-312; CYS-316; THR-324; LEU-346 DEL; ARG-347; TYR-350; CYS-369; HIS-369; PRO-370; GLU-377; HIS-383; PRO-383; ARG-386; ASN-386; HIS-388; SER-389 DEL; ILE-412 DEL; ARG-426; ASP-427; PRO-518; TYR-560; ARG-566; SER-573; ARG-615; CYS-616; ARG-623; GLU-630; GLY-633; ARG-637; ARG-642; ARG-678; ARG-685; TRP-694; LYS-700; ARG-703 AND VAL-717; VARIANTS VAL-69; THR-499; HIS-532 AND VAL-671;
Spectrum of mutations in 60 Saudi patients with Mut methylmalonic acidemia.
Imtiaz F.; Al-Mubarak B.M.; Al-Mostafa A.; Al-Hamed M.; Allam R.; Al-Hassnan Z.; Al-Owain M.; Al-Zaidan H.; Rahbeeni Z.; Qari A.; Faqeih E.A.; Alasmari A.; Al-Mutairi F.; Alfadhel M.; Eyaid W.M.; Rashed M.S.; Al-Sayed M.;
JIMD Rep. 29:39-46(2016)
Cited for: VARIANTS MMAM HIS-93; CYS-108; CYS-110; SER-174; SER-215; SER-364; ILE-387; PRO-692 AND TRP-694;
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.