UniProtKB/Swiss-Prot Q9Y2K9: Variant p.Val1043Ile

Syntaxin-binding protein 5-like
Gene: STXBP5L
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Variant information Variant position:

1043 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Valine (V) to Isoleucine (I) at position 1043 (V1043I, p.Val1043Ile). 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:

Found in a family with autosomal recessive infantile-onset neurodegenerative disease; uncertain significance; loss of axonal outgrowth. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs767675000 [ dbSNP | Ensembl ]

Sequence information Variant position:

1043 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1186 The length of the canonical sequence.
Location on the sequence:

TDMRIARTFCFTNEGQALYL V SPTEIQRLTYSQEMCDNLQD 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                         TDMRIARTFCFTNEGQALYLVSPTEIQRLTYSQEMCDNLQD

Mouse                         TDMRIARTFCFTNEGQALYLVSPTEIQRLTYSQEMCDNIQD

Zebrafish                     TDMRIARTFCFTNGGQALYLCSPTEIQRITYSQEMCET---

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 – 1186	Syntaxin-binding protein 5-like
Repeat	1032 – 1055	WD 14
Alternative sequence	75 – 1186	Missing. In isoform 2.

Literature citations
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.
Kumar R.; Corbett M.A.; Smith N.J.; Jolly L.A.; Tan C.; Keating D.J.; Duffield M.D.; Utsumi T.; Moriya K.; Smith K.R.; Hoischen A.; Abbott K.; Harbord M.G.; Compton A.G.; Woenig J.A.; Arts P.; Kwint M.; Wieskamp N.; Gijsen S.; Veltman J.A.; Bahlo M.; Gleeson J.G.; Haan E.; Gecz J.;
Hum. Mol. Genet. 24:2000-2010(2015)
Cited for: FUNCTION; VARIANT ILE-1043; CHARACTERIZATION OF VARIANT ILE-1043;

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.