UniProtKB/Swiss-Prot Q96FH0: Variant p.Ser42Pro

BLOC-1-related complex subunit 8
Gene: BORCS8
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Variant information Variant position:

42 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 Serine (S) to Proline (P) at position 42 (S42P, p.Ser42Pro). 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 small size and polar (S) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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 NDOABA; uncertain significance; decreased function in lysosome localization to peripheral cytoplasm; contrary to the wild type, the mutant does not rescue defects in lysosomal distribution in BORCS8-deficient cells; reduced interaction with BORCS5 and BORCS7. Any additional useful information about the variant.

Sequence information Variant position:

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

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

YVLANEPSVALYRLQEHVRR S LPELAQHKADMQRWEEQSQG 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                         YVLANEPSVALYRLQEHVRRSLPELAQHKADMQRWEEQSQG

Mouse                         YVLANEPSVALYRLQEHVRRSLPELAQHKADMQRWEEQSQG

Zebrafish                     YVLANEPSIALYRLQEHVRRSLPELVQHKTDMQSWEEQSQG

Caenorhabditis elegans        RLLDNEPSLALYRLQEHTVRSLPGLVNRRIMLTQQSATLSG

Drosophila                    HIFANDPSLAFFRVQEHVRKVTPAIFEKRDEVFQLQNNLQG

Slime mold                    QQVANEPTIGLFHVQDHIRRNIPKNVELKKNIKALGEKIEE

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 – 119	BLOC-1-related complex subunit 8

Literature citations
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
De Pace R.; Maroofian R.; Paimboeuf A.; Zamani M.; Zaki M.S.; Sadeghian S.; Azizimalamiri R.; Galehdari H.; Zeighami J.; Williamson C.D.; Fleming E.; Zhou D.; Gannon J.L.; Thiffault I.; Roze E.; Suri M.; Zifarelli G.; Bauer P.; Houlden H.; Severino M.; Patten S.A.; Farrow E.; Bonifacino J.S.;
Brain 147:1751-1767(2024)
Cited for: VARIANTS NDOABA PRO-29; PRO-42 AND PRO-66; INVOLVEMENT IN NDOABA; CHARACTERIZATION OF VARIANTS NDOABA PRO-29; PRO-42 AND PRO-66; FUNCTION;

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.