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UniProtKB/Swiss-Prot Q13286: Variant p.Leu170Pro

Battenin
Gene: CLN3
Variant information

Variant position:  170
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Leucine (L) to Proline (P) at position 170 (L170P, p.Leu170Pro).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In CLN3; Decreases synthesis of bis(monoacylglycerol)phosphate..
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   TSLCGVVFASISSGLGEVTF  L SLTAFYPRAVISWWSSGTGG
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--GVVFASISSGLGEVTFLSLTAFYPRAVISWWSSGTGG

                              TSLC--GVVLASISSGVGEVTFLSLTAFYPRAVISWWSSGT

Mouse                         LSLC--GVVLASISSGLGEVTFLSLTAFYPSAVISWWSSGT

Slime mold                    FGFCIAAIAFVGIASSFGESVILSYMKKFPAELVNGWSSGT

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.

TypePositionsDescription
Chain 1 – 435 Battenin
Transmembrane 152 – 172 Helical
Alternative sequence 128 – 226 Missing. In isoform 6.
Alternative sequence 155 – 264 Missing. In isoform 5.


Literature citations

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;

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.