Sequence information
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:
VKVKDSKLPAYKDLGKNLPF
P TYFPDGDEEELPEDLYDENV
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 VKVKDSKLPAYKDLGKNLPFP TYFP-----------DGDEEELPEDL-----YDENV
Mouse VKIKDSTLPAYKDSCKNLPFP TYFP-----------DGDEE
Rat VKIKDSTLPAYKDLGKSLPFP TYFP-----------DGDEE
Bovine VKIKDSVLPAYKDFCKNLPFP TYFP-----------DEDEK
Caenorhabditis elegans ILLKDC-LQEEKRL-KSGPMP TWAPSLETIEEEPETEPEEG
Baker's yeast GEGYGSSLKEAKARAATDALM KWYCY----------EPLAQ
Fission yeast GQGQASSLNLAEQQAAYNSLI SYYIH----------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
Chain
41 – 348
39S ribosomal protein L3, mitochondrial
Literature citations
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;
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.