Variant position: 317 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 348 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 VKVKDSKLPAYKDLGKNLPF PTYFP-----------DGDEEELPEDL-----YDENV
Mouse VKIKDSTLPAYKDSCKNLPF PTYFP-----------DGDEE
Rat VKIKDSTLPAYKDLGKSLPF PTYFP-----------DGDEE
Bovine VKIKDSVLPAYKDFCKNLPF PTYFP-----------DEDEK
Caenorhabditis elegans ILLKDC-LQEEKRL-KSGPM PTWAPSLETIEEEPETEPEEG
Baker's yeast GEGYGSSLKEAKARAATDAL MKWYCY----------EPLAQ
Fission yeast GQGQASSLNLAEQQAAYNSL ISYYIH----------SPPFR
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
41 – 348 39S ribosomal protein L3, mitochondrial
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy.
Galmiche L.; Serre V.; Beinat M.; Assouline Z.; Lebre A.S.; Chretien D.; Nietschke P.; Benes V.; Boddaert N.; Sidi D.; Brunelle F.; Rio M.; Munnich A.; Rotig A.;
Hum. Mutat. 32:1225-1231(2011)
Cited for: VARIANT COXPD9 ARG-317;
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