UniProtKB/Swiss-Prot Q6ZU15: Variant p.Ile333Thr

Septin-14
Gene: SEPTIN14
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Variant information Variant position:

333 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 Isoleucine (I) to Threonine (T) at position 333 (I333T, p.Ile333Thr). 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 (I) to medium size and polar (T) 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:

Found in patients with teratozoospermia; uncertain significance; sperm heads are malformed and contain vacuoles; chromatin packaging and structure is abnormal with an increase in fragmented DNA; decreases sperm filamentous structure formation; loss of SEPTIN14 and ACTN4 localization to cell filament structures; no effect on interaction with ACTN4. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs185254020 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LQKMGFTDVGPNNQPVSFQE I FEAKRQEFYDQCQREEEELK 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                         LQKMGFTDVGPNNQPVSFQEIFEAKRQEFYDQCQREEEELK

Mouse                         LQKLGFSDTGPDNRPVSFQEMYEAKRREFHNQCQKEEEELK

Bovine                        LHMMGFTDMGPNNQPVSFQEIYEAKRQELLEQCQREEEELK

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 – 432	Septin-14
Coiled coil	332 – 412

Literature citations
SEPT14 Mutations and Teratozoospermia: Genetic Effects on Sperm Head Morphology and DNA Integrity.
Wang Y.Y.; Lai T.H.; Chen M.F.; Lee H.L.; Kuo P.L.; Lin Y.H.;
J. Clin. Med. 8:0-0(2019)
Cited for: VARIANTS THR-123 AND THR-333; CHARACTERIZATION OF VARIANTS THR-123 AND THR-333; SUBCELLULAR LOCATION;
ACTN4 Mediates SEPT14 Mutation-Induced Sperm Head Defects.
Lin Y.H.; Huang C.Y.; Ke C.C.; Wang Y.Y.; Lai T.H.; Liu H.C.; Ku W.C.; Chan C.C.; Lin Y.H.;
Biomedicines 8:0-0(2020)
Cited for: CHARACTERIZATION OF VARIANTS THR-123 AND THR-333; FUNCTION; INTERACTION WITH ACTN4;

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.