Variant position: 170 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:
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 TSLC--GVVFASISSGLGEVTF LSLTAFYPRAVISWWSSGTGG
Mouse LSLC--GVVLASISSGLGEVTF LSLTAFYPSAVISWWSSGT
Slime mold FGFCIAAIAFVGIASSFGESVI LSYMKKFPAELVNGWSSGT
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 – 435 Battenin
152 – 172 Helical
128 – 226 Missing. In isoform 6.
155 – 264 Missing. In isoform 5.
A novel role of the Batten disease gene CLN3: association with BMP synthesis.
Hobert J.A.; Dawson G.;
Biochem. Biophys. Res. Commun. 358:111-116(2007)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANT CLN3 PRO-170;
Spectrum of mutations in the Batten disease gene, CLN3.
Munroe P.B.; Mitchison H.M.; O'Rawe A.M.; Anderson J.W.; Boustany R.-M.N.; Lerner T.J.; Taschner P.E.M.; de Vos N.; Breuning M.H.; Gardiner R.M.; Mole S.E.;
Am. J. Hum. Genet. 61:310-316(1997)
Cited for: VARIANTS CLN3 PRO-101; PRO-170; LYS-295; PHE-330; CYS-334 AND HIS-334;
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;
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.