Variant position: 20 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 266 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 MLLLTRSPTAW---------HRLSQLKP RVLPGTL-GGQALH--LRSWLLSR
Mouse -MLLALGPKAW---------PKLSQFKP --LLRIS-GGET
Bovine MLLLARPPKAW---------HRLFQLQP LALLGTP-GGKT
Zebrafish LRVFDRHKRLWSVLQSTIRGNNISNHIP NTTCRSS-APPH
Baker's yeast MLNSSRKYAC----------RSLFRQAN VSIKGLFYNGGA
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
1 – 41 Mitochondrion
A genome annotation-driven approach to cloning the human ORFeome.
Collins J.E.; Wright C.L.; Edwards C.A.; Davis M.P.; Grinham J.A.; Cole C.G.; Goward M.E.; Aguado B.; Mallya M.; Mokrab Y.; Huckle E.J.; Beare D.M.; Dunham I.;
Genome Biol. 5:R84.1-R84.11(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT PRO-20;
A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.
Mobley B.C.; Enns G.M.; Wong L.J.; Vogel H.;
Clin. Neuropathol. 28:143-149(2009)
Cited for: VARIANT PRO-20; VARIANT MC4DN2 SER-193;
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