Variant position: 183 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 453 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 AVAFQNPQTHVIENLHAAAY RNALANPLYCPDYRIGKVTSE
Mouse AVAFQNSQTRIIENLHDVAY KNALANPLYCPDYRMGKITSE
Rat AVAFQNPQTRIIENLHDVAY KNALANPLYCPDYRMGKITSE
Bovine AVALQNPQAHVIENLHAAAY RNALANSLYCPDYRIGKVTPV
Baker's yeast AVAEQCPVKSAEDQLYAITF RKGLGNPLLYDG--VERVSLQ
Fission yeast ELFREDILRVAMAKLHEKAF HRGIGNEVYLPA--SASPSIS
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
15 – 453 Cytochrome b-c1 complex subunit 2, mitochondrial
199 – 199 N6-acetyllysine
182 – 184
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
Miyake N.; Yano S.; Sakai C.; Hatakeyama H.; Matsushima Y.; Shiina M.; Watanabe Y.; Bartley J.; Abdenur J.E.; Wang R.Y.; Chang R.; Tsurusaki Y.; Doi H.; Nakashima M.; Saitsu H.; Ogata K.; Goto Y.; Matsumoto N.;
Hum. Mutat. 34:446-452(2013)
Cited for: VARIANT MC3DN5 TRP-183;
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