Variant position: 3649 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4349 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 QAMWMGFYQLTPEELVSDHW RNLQRFLSHKLDIKRANIHLA
Mouse QAVWLGFHQLTPEELVSDHW RNLQRFLSNILDIKRANIHLA
Rat QAVWLGFHQLTPEELVSDHW RNLQRFLSNLLDVKRANIHLA
Caenorhabditis elegans -------------------- --FFKYLHY------------
Drosophila ESVVIRFRRISASEFLLSHR KTFMRSIRNIMRCRQKDVILI
Baker's yeast -------------------Y EELVNFLKK---------HLA
Fission yeast -------------------- KQLHDYLEQ---------KVA
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
19 – 4349 Protocadherin Fat 2
19 – 4048 Extracellular
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Nibbeling E.A.R.; Duarri A.; Verschuuren-Bemelmans C.C.; Fokkens M.R.; Karjalainen J.M.; Smeets C.J.L.M.; de Boer-Bergsma J.J.; van der Vries G.; Dooijes D.; Bampi G.B.; van Diemen C.; Brunt E.; Ippel E.; Kremer B.; Vlak M.; Adir N.; Wijmenga C.; van de Warrenburg B.P.C.; Franke L.; Sinke R.J.; Verbeek D.S.;
Cited for: INVOLVEMENT IN SCA45; VARIANTS SCA45 ASN-3586 AND GLN-3649;
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