UniProtKB/Swiss-Prot Q14814: Variant p.Pro434Ser

Myocyte-specific enhancer factor 2D
Gene: MEF2D
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Variant information Variant position:

434 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Proline (P) to Serine (S) at position 434 (P434S, p.Pro434Ser). 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 (P) to small size and polar (S) 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
Other resources:

Links to websites of interest for the variant.

Variant rs2274315 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NLIPGSPLPHVGAALTVTTH P HISIKSEPVSPSRERSPAPP 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                         NLIPGSPLPHVGAALTVTTHP-HISIKSEPVSPSRERSPAPP

Mouse                         NLIPGSPLPHVGAALTVTTHP-HISIKSEPVSPSRERSPAP

Rat                           NLIPGSPLPHVGAALTVTTHP-HISIKSEPVSPSRERSPAP

Xenopus laevis                NLVSSSHLPHT-ATLTVNTNPINISIKREPASPNRERSTGT

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 – 521	Myocyte-specific enhancer factor 2D
Modified residue	439 – 439	N6-acetyllysine; alternate
Modified residue	444 – 444	Phosphoserine
Cross	439 – 439	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO); alternate
Mutagenesis	437 – 437	S -> A. No effect on MAPK7- or EGF-mediated transcriptional activity.
Mutagenesis	438 – 438	I -> A. Abolishes K-439 sumoylation.
Mutagenesis	439 – 439	K -> R. Abolishes sumoylation and acetylation.
Mutagenesis	444 – 444	S -> A. Abolishes K-439 sumoylation. Reduced neurotoxin-induced apoptosis of neuronal cells. More resistant to degradation.
Mutagenesis	444 – 444	S -> E. No effect on K-439 sumoylation.

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.