Sequence information
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:
CLYAYLHIPASHNKYYMLVA
R GLLGIGAGNVAVVRSYTAGA
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 CLYAYLHIPASHNKYYMLVAR GLLGIGAGNVAVVRSYTAGA
Mouse CLYAYVHVPAAHNKYYMLIAR GLVGFGAGNVAVVRSYIAGA
Xenopus laevis CLYAYVHVPASHNKYYMLLAR TFVGFGSGNVAVVRSYVAGA
Zebrafish IYYSYVYLPPSHNQIHMLLAR TFVGIGAGNVAVVRSYVAGA
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
Chain
1 – 518
Major facilitator superfamily domain-containing protein 8
Transmembrane
132 – 152
Helical
Literature citations
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.;
Brain 132:810-819(2009)
Cited for: VARIANTS CLN7 HIS-139; PRO-157; LYS-294; ASP-310 AND TRP-465;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.