UniProtKB/Swiss-Prot O00255: Variant p.Gly305Asp

Menin
Gene: MEN1
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Variant information Variant position:

305 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 Glycine (G) to Aspartate (D) at position 305 (G305D, p.Gly305Asp). 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 glycine (G) to medium size and acidic (D) 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:

Found in isolated hyperparathyroidism; likely pathogenic. Any additional useful information about the variant.

Sequence information Variant position:

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

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

DLEELEPTPGRPDPLTLYHK G IASAKTYYRDEHIYPYMYLA 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                         DLEELEPTPGRPDPLTLYHKGIASAKTYYRDEHIYPYMYLA

                              DLEELEPTPGRPDPLTLYHKGIASAKTYYRDEHIYPYMYLA

Mouse                         DLEELEPTPGRPDPLTLYHKGIASAKTYYQDEHIYPYMYLA

Rat                           DLEELEPTPGRPDPLTLYHKGIASAKTYYQDEHIYPYMYLA

Bovine                        DLEELEPTPGRPDPLTLYHKGIASAKTYYRDEHIYPYMYLA

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 – 610	Menin
Region	214 – 390	Interaction with FANCD2
Mutagenesis	285 – 285	D -> R. Reduced interaction with KMT2A; when associated with R-288 and R-290.
Mutagenesis	288 – 288	E -> R. Reduced interaction with KMT2A; when associated with R-285 and R-290.
Mutagenesis	290 – 290	E -> R. Reduced interaction with KMT2A; when associated with R-285 and R-288.
Mutagenesis	319 – 319	Y -> A. Reduced interaction with KMT2A.
Mutagenesis	323 – 323	Y -> A. Reduced interaction with KMT2A.
Helix	298 – 312

Literature citations
A novel mutation of the MEN1 gene in a Japanese kindred with familial isolated primary hyperparathyroidism.
Honda M.; Tsukada T.; Tanaka H.; Maruyama K.; Yamaguchi K.; Obara T.; Yamaji T.; Ishibashi M.;
Eur. J. Endocrinol. 142:138-143(2000)
Cited for: VARIANT ASP-305; INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM;

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.