UniProtKB/Swiss-Prot O14686: Variant p.Pro2382Ser

Histone-lysine N-methyltransferase 2D
Gene: KMT2D
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Variant information Variant position:

2382 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 2382 (P2382S, p.Pro2382Ser). 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 rs3741626 [ dbSNP | Ensembl ]

Sequence information Variant position:

2382 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

5537 The length of the canonical sequence.
Location on the sequence:

PPSHPDIFRPGSYTDPYAQP P LTPRPQPPPPESCCALPPRS 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                         PPSHPDIFRPGSYTDPYAQPPLTPRPQPPPPESCCALPPRS

Mouse                         PPSHPDVFRSGPYPDPYAQPPLTPRPQPPPPESCCAPPPRS

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 – 5537	Histone-lysine N-methyltransferase 2D
Region	2165 – 2683	Disordered
Compositional bias	2378 – 2398	Pro residues

Literature citations
MLL2 mutation spectrum in 45 patients with Kabuki syndrome.
Paulussen A.D.; Stegmann A.P.; Blok M.J.; Tserpelis D.; Posma-Velter C.; Detisch Y.; Smeets E.E.; Wagemans A.; Schrander J.J.; van den Boogaard M.J.; van der Smagt J.; van Haeringen A.; Stolte-Dijkstra I.; Kerstjens-Frederikse W.S.; Mancini G.M.; Wessels M.W.; Hennekam R.C.; Vreeburg M.; Geraedts J.; de Ravel T.; Fryns J.P.; Smeets H.J.; Devriendt K.; Schrander-Stumpel C.T.;
Hum. Mutat. 32:E2018-E2025(2011)
Cited for: VARIANTS KABUK1 CYS-5210 AND ASP-5428; VARIANTS THR-692; LEU-813; SER-2382; CYS-2460; LEU-2557; VAL-3398; GLY-3419 AND SER-4357;

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.