Variant position: 232 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 357 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 SIKAYVSTLMGV-PGRTMGVM-- FTPLTVKYAYYDTERIGVDLI
Chimpanzee SIKAYVSTLMGV-PGRTMGVM-- FTPLTVKYAYYDTERIGV
Mouse SIKAYVSTLMGV-PGRTMGVM-- FTPLTVKYAYYDTERIGV
Caenorhabditis elegans PVRAYLRSKAGI-PGAAGPHCAI FNPLRVELAAFPGELVAM
Slime mold GIHAYMAHNLSLNPESSLGSY-- FSQLPLEILTFEAENAGL
Fission yeast AIKTYVSSPVGI-TERLADSCA- FVPTPFTIRDDEAVRSGL
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
2 – 357 Eukaryotic translation initiation factor 3 subunit F
238 – 238 N6-acetyllysine
231 – 239
Quantifying the contribution of recessive coding variation to developmental disorders.
Martin H.C.; Jones W.D.; McIntyre R.; Sanchez-Andrade G.; Sanderson M.; Stephenson J.D.; Jones C.P.; Handsaker J.; Gallone G.; Bruntraeger M.; McRae J.F.; Prigmore E.; Short P.; Niemi M.; Kaplanis J.; Radford E.J.; Akawi N.; Balasubramanian M.; Dean J.; Horton R.; Hulbert A.; Johnson D.S.; Johnson K.; Kumar D.; Lynch S.A.; Mehta S.G.; Morton J.; Parker M.J.; Splitt M.; Turnpenny P.D.; Vasudevan P.C.; Wright M.; Bassett A.; Gerety S.S.; Wright C.F.; FitzPatrick D.R.; Firth H.V.; Hurles M.E.; Barrett J.C.;
Cited for: INVOLVEMENT IN MRT67; VARIANT MRT67 VAL-232; CHARACTERIZATION OF VARIANT MRT67 VAL-232;
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