UniProtKB/Swiss-Prot Q99873: Variant p.Lys88Met

Protein arginine N-methyltransferase 1
Gene: PRMT1
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Variant information Variant position:

88 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 Lysine (K) to Methionine (M) at position 88 (K88M, p.Lys88Met). 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 (K) to medium size and hydrophobic (M) 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 rs1804486 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

KDEVRTLTYRNSMFHNRHLF K DKVVLDVGSGTGILCMFAAK 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                         KDEVRTLTYRNSMFHNRHLFKDKVVLDVGSGTGILCMFAAK

Mouse                         KDEVRTLTYRNSMFHNRHLFKDKVVLDVGSGTGILCMFAAK

Rat                           KDEVRTLTYRNSMFHNRHLFKDKVVLDVGSGTGILCMFAAK

Xenopus tropicalis            KDEVRTLTYRNSMFHNRHLFKDKVVLDVGSGTGILCMFAAK

Caenorhabditis elegans        KDEVRTTTYRNSIYHNSHLFKDKVVMDVGSGTGILSMFAAK

Slime mold                    KDEVRTLAYRRAIINNRKLFEGKVVLDVGCGTGILCMFAAQ

Fission yeast                 KDDVRTLSYRDAIMQNPHLFRDKIVLDVGCGTGILSMFCAR

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 – 371	Protein arginine N-methyltransferase 1
Domain	50 – 361	SAM-dependent MTase PRMT-type
Binding site	72 – 72
Binding site	72 – 72
Binding site	96 – 96
Mutagenesis	92 – 92	V -> A. Loss of FOXO1 methylation, its nuclear retention, and transcriptional activity.
Mutagenesis	93 – 93	L -> A. Loss of FOXO1 methylation, its nuclear retention, and transcriptional activity.
Mutagenesis	94 – 94	D -> A. Loss of FOXO1 methylation, its nuclear retention, and transcriptional activity.
Mutagenesis	98 – 98	G -> R. Does not restore mTORC1 signaling pathway upon methionine or S-adenosyl-L-methionine (SAM) stimulation in PRMT1-depleted cells. Does not affect interaction with GATOR1 complex. Impairs methyltransferase activity. Inhibits methionine-stimulated mTORC1 signaling pathway. Does not affect localization at lysosome membrane.

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.