UniProtKB/Swiss-Prot Q6VVB1: Variant p.Pro111Leu

E3 ubiquitin-protein ligase NHLRC1
Gene: NHLRC1
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Variant information Variant position:

111 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Proline (P) to Leucine (L) at position 111 (P111L, p.Pro111Leu). 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
Other resources:

Links to websites of interest for the variant.

Variant rs10949483 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

ELLGSALRQSPAAHRAAPSA P GALTCHHTFGGWGTLVNPTG 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                         ELLGSALRQSPAAHRAAPSAPGALTCHHTFGGWGTLVNPTG

Mouse                         ELLGSTLHASPAALSAAPFAPGTLTCYHAFGGWGTLVNPTG

Rat                           ELLGSTLHASPAALSAASCAPGALTCYHAFGGWGTLVNPTG

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 – 395	E3 ubiquitin-protein ligase NHLRC1

Literature citations
Mutations in NHLRC1 cause progressive myoclonus epilepsy.
Chan E.M.; Young E.J.; Ianzano L.; Munteanu I.; Zhao X.; Christopoulos C.C.; Avanzini G.; Elia M.; Ackerley C.A.; Jovic N.J.; Bohlega S.; Andermann E.; Rouleau G.A.; Delgado-Escueta A.V.; Minassian B.A.; Scherer S.W.;
Nat. Genet. 35:125-127(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS MELF2 SER-26; SER-33; ALA-69; PRO-87; ASN-146 AND PRO-302; VARIANT LEU-111; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT LEU-111; Mutations in the NHLRC1 gene are the common cause for Lafora disease in the Japanese population.
Singh S.; Suzuki T.; Uchiyama A.; Kumada S.; Moriyama N.; Hirose S.; Takahashi Y.; Sugie H.; Mizoguchi K.; Inoue Y.; Kimura K.; Sawaishi Y.; Yamakawa K.; Ganesh S.;
J. Hum. Genet. 50:347-352(2005)
Cited for: VARIANTS MELF2 MET-153; ARG-160; ARG-219; ASN-245 AND LYS-253; VARIANT LEU-111;

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.