Variant position: 139 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 518 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 CLYAYLHIPASHNKYYMLVA RGLLGIGAGNVAVVRSYTAGA
Mouse CLYAYVHVPAAHNKYYMLIA RGLVGFGAGNVAVVRSYIAGA
Xenopus laevis CLYAYVHVPASHNKYYMLLA RTFVGFGSGNVAVVRSYVAGA
Zebrafish IYYSYVYLPPSHNQIHMLLA RTFVGIGAGNVAVVRSYVAGA
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 – 518 Major facilitator superfamily domain-containing protein 8
132 – 152 Helical
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Kousi M.; Siintola E.; Dvorakova L.; Vlaskova H.; Turnbull J.; Topcu M.; Yuksel D.; Gokben S.; Minassian B.A.; Elleder M.; Mole S.E.; Lehesjoki A.-E.;
Cited for: VARIANTS CLN7 HIS-139; PRO-157; LYS-294; ASP-310 AND TRP-465;
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