UniProtKB/Swiss-Prot P34897: Variant p.Gln435Pro

Serine hydroxymethyltransferase, mitochondrial
Gene: SHMT2
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Variant information Variant position:

435 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 Glutamine (Q) to Proline (P) at position 435 (Q435P, p.Gln435Pro). 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 polar (Q) 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 NEDCASB; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs2037448764 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

DRSAITPGGLRLGAPALTSR Q FREDDFRRVVDFIDEGVNIG 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                         DRSAITPGGLRLGAPALTSRQFREDDFRRVVDFIDEGVNIG-----

Mouse                         DRSAITPGGLRLGAPALTSRQFREDDFRRVVDFIDEGVNIG

Bovine                        DRSAITPGGLRLGAPALTSRGFLEDDFRKVVGFIDEGVNIG

Rabbit                        DRSAITPGGLRLGAPALTSRQFREDDFRRVVDFIDEGVNIG

Baker's yeast                 DKSALFPSGLRIGTPAMTTRGFGREEFSQVAKYIDSAVKLA

Fission yeast                 DKSALIPRGLRLGTPACTTRGFDEKDFERVVELIDEVVSLT

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	30 – 504	Serine hydroxymethyltransferase, mitochondrial
Turn	433 – 435

Literature citations
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.
Garcia-Cazorla A.; Verdura E.; Julia-Palacios N.; Anderson E.N.; Goicoechea L.; Planas-Serra L.; Tsogtbaatar E.; Dsouza N.R.; Schlueter A.; Urreizti R.; Tarnowski J.M.; Gavrilova R.H.; Ruiz M.; Rodriguez-Palmero A.; Fourcade S.; Cogne B.; Besnard T.; Vincent M.; Bezieau S.; Folmes C.D.; Zimmermann M.T.; Klee E.W.; Pandey U.B.; Artuch R.; Cousin M.A.; Pujol A.;
Acta Neuropathol. 140:971-975(2020)
Cited for: INVOLVEMENT IN NEDCASB; VARIANTS NEDCASB SER-157; ARG-186; ASP-379; SER-423; PRO-435 AND ALA-499; CHARACTERIZATION OF VARIANT NEDCASB ALA-499; FUNCTION; CATALYTIC ACTIVITY; PATHWAY;

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.