UniProtKB/Swiss-Prot Q9UJJ9: Variant p.Thr286Met

N-acetylglucosamine-1-phosphotransferase subunit gamma
Gene: GNPTG
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Variant information Variant position:

286 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 Threonine (T) to Methionine (M) at position 286 (T286M, p.Thr286Met). 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 (T) 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
Variant description:

Does not affect localization to Golgi apparatus. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs193302860 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

HGIPYTRPTETSNLEHLGHE T PRAKSPEQLRGDPGLRGSL 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                         HGIPYTRPTETSNLEHLGHETPRAKS-PEQLRGDPGLRG-SL

Mouse                         HGIPHTQPTETTHSQHLGQQLPIGAIAAEHLRSDPGLRGN

Bovine                        HGVPYGKPTETPSSEHWGPQVPTAGM-AEPLRGDPGLRGD

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	25 – 305	N-acetylglucosamine-1-phosphotransferase subunit gamma
Region	267 – 305	Disordered
Compositional bias	278 – 292	Basic and acidic residues

Literature citations
Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.
Persichetti E.; Chuzhanova N.A.; Dardis A.; Tappino B.; Pohl S.; Thomas N.S.; Rosano C.; Balducci C.; Paciotti S.; Dominissini S.; Montalvo A.L.; Sibilio M.; Parini R.; Rigoldi M.; Di Rocco M.; Parenti G.; Orlacchio A.; Bembi B.; Cooper D.N.; Filocamo M.; Beccari T.;
Hum. Mutat. 30:978-984(2009)
Cited for: VARIANTS MLIIIC SER-106 AND ASN-115 DEL; VARIANT MET-286; Mucolipidosis III GNPTG missense mutations cause misfolding of the gamma subunit of GlcNAc-1-phosphotransferase.
van Meel E.; Kornfeld S.;
Hum. Mutat. 37:623-626(2016)
Cited for: CHARACTERIZATION OF VARIANT MLIIIC SER-106 AND TYR-142; CHARACTERIZATION OF VARIANT MET-286; SUBCELLULAR LOCATION;

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.