UniProtKB/SwissProt variant VAR

DnaJ homolog subfamily C member 5
Gene: DNAJC5
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Variant information Variant position:

115 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 Arginine (R) at position 115 (L115R, p.Leu115Arg). 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:

Change from medium size and hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 CLN4B; results in near absence of palmitoylated monomeric forms of the protein and formation of high molecular mass aggregates with diffuse intracellular localization. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs387907043 [ dbSNP | Ensembl ]

Sequence information Variant position:

115 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

198 The length of the canonical sequence.
Location on the sequence:

VNTYFVLSSWWAKALFVFCG L LTCCYCCCCLCCCFNCCCGK 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                         VNTYFVLSSWWAKALFVFCGLLTCCYCCCCLCCCFNCCCGK

Mouse                         VNTYFVLSSWWAKALFVVCGLLTCCYCCCCLCCCFNCCCGK

Rat                           VNTYFVLSSWWAKALFVVCGLLTCCYCCCCLCCCFNCCCGK

Bovine                        VNTYFVLSSWWAKALFIFCGLLTCCYCCCCLCCCFNCCCGK

Xenopus laevis                VNTYFVLSSWWAKALFMFCGLITGCYCCCCLCCCCNCCCGK

Drosophila                    VNAYFVVTSPAVKAVVICCAVITGCCCCCCCCCCCNFCCGK

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 – 198	DnaJ homolog subfamily C member 5
Mutagenesis	113 – 136	CGLLTCCYCCCCLCCCFNCCCGKC -> SGLLTSSYSSSSLSSSFNSSSGKS. No effect on oligomerization.

Literature citations
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis.
Noskova L.; Stranecky V.; Hartmannova H.; Pristoupilova A.; Baresova V.; Ivanek R.; Hulkova H.; Jahnova H.; van der Zee J.; Staropoli J.F.; Sims K.B.; Tyynela J.; Van Broeckhoven C.; Nijssen P.C.; Mole S.E.; Elleder M.; Kmoch S.;
Am. J. Hum. Genet. 89:241-252(2011)
Cited for: SUBCELLULAR LOCATION; VARIANTS CLN4B ARG-115 AND LEU-116 DEL; CHARACTERIZATION OF VARIANTS CLN4B ARG-115 AND LEU-116 DEL; Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.
Benitez B.A.; Alvarado D.; Cai Y.; Mayo K.; Chakraverty S.; Norton J.; Morris J.C.; Sands M.S.; Goate A.; Cruchaga C.;
PLoS ONE 6:E26741-E26741(2011)
Cited for: VARIANT CLN4B ARG-115; Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.
Greaves J.; Lemonidis K.; Gorleku O.A.; Cruchaga C.; Grefen C.; Chamberlain L.H.;
J. Biol. Chem. 287:37330-37339(2012)
Cited for: CHARACTERIZATION OF VARIANTS CLN4B ARG-115 AND LEU-116 DEL; Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.
Velinov M.; Dolzhanskaya N.; Gonzalez M.; Powell E.; Konidari I.; Hulme W.; Staropoli J.F.; Xin W.; Wen G.Y.; Barone R.; Coppel S.H.; Sims K.; Brown W.T.; Zuchner S.;
PLoS ONE 7:E29729-E29729(2012)
Cited for: VARIANTS CLN4B ARG-115 AND LEU-116 DEL; Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease.
Cadieux-Dion M.; Andermann E.; Lachance-Touchette P.; Ansorge O.; Meloche C.; Barnabe A.; Kuzniecky R.I.; Andermann F.; Faught E.; Leonberg S.; Damiano J.A.; Berkovic S.F.; Rouleau G.A.; Cossette P.;
Clin. Genet. 83:571-575(2013)
Cited for: VARIANTS CLN4B ARG-115 AND LEU-116 DEL;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H3Z4: Variant p.Leu115Arg