UniProtKB/Swiss-Prot Q8N0Z6: Variant p.Ala231Val

Tetratricopeptide repeat protein 5
Gene: TTC5
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Variant information Variant position:

231 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 Alanine (A) to Valine (V) at position 231 (A231V, p.Ala231Val). 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 hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 NEDCAFD; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs749799203 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

AQAEKVDRKASSNPDLHLNR A TLHKYEESYGEALEGFSRAA 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                         AQAEKVDRKASSNPDLHLNRATLHKYEESYGEALEGFSRAA

Mouse                         AQAEKVDRKASSNPDLHLNRATLHKYEESYGEALEGFSQAA

Rat                           AQAEKVDRKASSNPDLHLNRATLHKYEESYGEALEGFSQAA

Bovine                        AQAEKVDRTASSNPDLHLNRATLHKYEENYGEALEGFSRAA

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 – 440	Tetratricopeptide repeat protein 5
Repeat	224 – 253	TPR 6
Site	225 – 225	Mediates interaction with N-terminal MREI motif of beta-tubulin nascent chain
Modified residue	221 – 221	Phosphoserine; by CHEK2
Mutagenesis	225 – 225	D -> A. Partial loss of interaction with N-terminal MREI motif of beta-tubulin nascent chain. Loss of interaction with N-terminal MREI motif of beta-tubulin nascent chain; when associated with A-259.

Literature citations
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.
Rasheed A.; Gumus E.; Zaki M.; Johnson K.; Manzoor H.; LaForce G.; Ross D.; McEvoy-Venneri J.; Stanley V.; Lee S.; Virani A.; Ben-Omran T.; Gleeson J.G.; Naz S.; Schaffer A.;
J. Med. Genet. 58:237-246(2021)
Cited for: INVOLVEMENT IN NEDCAFD; VARIANTS NEDCAFD CYS-210; VAL-231; 263-ARG--GLU-440 DEL AND 395-ARG--GLU-440 DEL; CHARACTERIZATION OF VARIANT NEDCAFD 395-ARG--GLU-440 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.