Variant position: 283 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 569 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 DEHFTPPTSDTGISLLKVAV HEIGHVLGLPHTYRTGSIMQP
Mouse DEHFTPLSSDTGISLLKVAV HEIGHVLGLPHTYRVGSIMQP
Xenopus laevis DEHFTAPSSEHGISLLKVAA HEIGHVLGLSHIHRVGSIMQP
Zebrafish DEHFTVPNTGSGISLLKVAV HEIGHVLGLPHIYRPGSIMQP
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.
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Akawi N.; McRae J.; Ansari M.; Balasubramanian M.; Blyth M.; Brady A.F.; Clayton S.; Cole T.; Deshpande C.; Fitzgerald T.W.; Foulds N.; Francis R.; Gabriel G.; Gerety S.S.; Goodship J.; Hobson E.; Jones W.D.; Joss S.; King D.; Klena N.; Kumar A.; Lees M.; Lelliott C.; Lord J.; McMullan D.; O'Regan M.; Osio D.; Piombo V.; Prigmore E.; Rajan D.; Rosser E.; Sifrim A.; Smith A.; Swaminathan G.J.; Turnpenny P.; Whitworth J.; Wright C.F.; Firth H.V.; Barrett J.C.; Lo C.W.; FitzPatrick D.R.; Hurles M.E.;
Nat. Genet. 47:1363-1369(2015)
Cited for: INVOLVEMENT IN HTX7; VARIANTS HTX7 TYR-283 AND THR-285; FUNCTION;
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