UniProtKB/Swiss-Prot P68366: Variant p.Arg215Cys

Tubulin alpha-4A chain
Gene: TUBA4A
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Variant information Variant position:

215 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 Arginine (R) to Cysteine (C) at position 215 (R215C, p.Arg215Cys). 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 large size and basic (R) to medium size and polar (C) 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:

In FTDALS9; uncertain significance; altered TUBA4A incorporation into microtubules; has no effect on the rate of first polar body extrusion when microinjected in mouse germinal vesicle oocytes; no effect on blastocyst formation when microinjected in mouse zygotes. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs730880028 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LEHSDCAFMVDNEAIYDICR R NLDIERPTYTNLNRLISQIV 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                         LEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLISQIV

Mouse                         LEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLISQIV

Rat                           LEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLISQIV

Bovine                        LEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLISQIV

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 – 448	Tubulin alpha-4A chain
Binding site	206 – 206
Binding site	228 – 228

Literature citations
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Smith B.N.; Ticozzi N.; Fallini C.; Gkazi A.S.; Topp S.; Kenna K.P.; Scotter E.L.; Kost J.; Keagle P.; Miller J.W.; Calini D.; Vance C.; Danielson E.W.; Troakes C.; Tiloca C.; Al-Sarraj S.; Lewis E.A.; King A.; Colombrita C.; Pensato V.; Castellotti B.; de Belleroche J.; Baas F.; ten Asbroek A.L.; Sapp P.C.; McKenna-Yasek D.; McLaughlin R.L.; Polak M.; Asress S.; Esteban-Perez J.; Munoz-Blanco J.L.; Simpson M.; van Rheenen W.; Diekstra F.P.; Lauria G.; Duga S.; Corti S.; Cereda C.; Corrado L.; Soraru G.; Morrison K.E.; Williams K.L.; Nicholson G.A.; Blair I.P.; Dion P.A.; Leblond C.S.; Rouleau G.A.; Hardiman O.; Veldink J.H.; van den Berg L.H.; Al-Chalabi A.; Pall H.; Shaw P.J.; Turner M.R.; Talbot K.; Taroni F.; Garcia-Redondo A.; Wu Z.; Glass J.D.; Gellera C.; Ratti A.; Brown R.H. Jr.; Silani V.; Shaw C.E.; Landers J.E.;
Neuron 84:324-331(2014)
Cited for: VARIANTS FTDALS9 PRO-145; CYS-215; CYS-320; HIS-320; THR-383 AND 407-TRP--GLU-448 DEL; CHARACTERIZATION OF VARIANTS FTDALS9 CYS-215; CYS-320; HIS-320; THR-383 AND 407-TRP--GLU-448 DEL; INVOLVEMENT IN FTDALS9;
Large-scale analysis of de novo mutations identifies risk genes for female infertility characterized by oocyte and early embryo defects.
Li Q.; Zhao L.; Zeng Y.; Kuang Y.; Guan Y.; Chen B.; Xu S.; Tang B.; Wu L.; Mao X.; Sun X.; Shi J.; Xu P.; Diao F.; Xue S.; Bao S.; Meng Q.; Yuan P.; Wang W.; Ma N.; Song D.; Xu B.; Dong J.; Mu J.; Zhang Z.; Fan H.; Gu H.; Li Q.; He L.; Jin L.; Wang L.; Sang Q.;
Genome Biol. 24:68-68(2023)
Cited for: VARIANTS OZEMA23 LYS-77; GLU-127; HIS-215; CYS-229; VAL-273; LYS-284; PRO-286; LEU-303; VAL-314; TYR-347 AND HIS-373; INVOLVEMENT IN OZEMA23; CHARACTERIZATION OF VARIANTS OZEMA23 LYS-77; HIS-215; CYS-229; LYS-284; PRO-286; LEU-303; VAL-314; TYR-347 AND HIS-373; CHARACTERIZATION OF VARIANTS CYS-215 AND HIS-320;

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.