Sequence information
Variant position: 189 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 438 The length of the canonical sequence.
Location on the sequence:
FLSLTAFYPRAVISWWSSGT
G GAGLLGALSYLGLTQAGLSP
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 FLSLTAFYPRAVISWWSSGTG GAGLLGALSYLGLTQAGLSP
FLSLTAFYPRAVISWWSSGTG GAGLMGALSYLGLTQAGLSP
Mouse FLSLTAFYPSAVISWWSSGTG GAGLLGSLSYLGLTQAGLSP
Slime mold ILSYMKKFPAELVNGWSSGTG IAGVCGSLFYIAMVAAGLSN
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 – 435
Battenin
Transmembrane
183 – 203
Helical
Alternative sequence
128 – 226
Missing. In isoform 6.
Alternative sequence
155 – 264
Missing. In isoform 5.
Alternative sequence
178 – 225
Missing. In isoform 2.
Literature citations
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M.; Lehesjoki A.E.; Mole S.E.;
Hum. Mutat. 33:42-63(2012)
Cited for: VARIANTS CLN3 PRO-101; ARG-134; PRO-170; ALA-187; ARG-189; LYS-295 AND HIS-334;
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.