UniProtKB/Swiss-Prot A2RRP1: Variant p.Gln44Glu

NBAS subunit of NRZ tethering complex
Gene: NBAS
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Variant information Variant position:

44 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 Glutamine (Q) to Glutamate (E) at position 44 (Q44E, p.Gln44Glu). 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 (Q) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

2 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 rs77081203 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

2371 The length of the canonical sequence.
Location on the sequence:

YDLLVNTEWPPETEVQPRGN Q KHGASFIITKAIRDRLLFLR 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                         YDLLVNTEWPPETEVQPRGNQKHGASFIITKAIRDRLLFLR

Zebrafish                     YDLLVNTEWPPETDTQLRGLKEHNSS-LVAKAVTGPFRFFL

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 – 2371	NBAS subunit of NRZ tethering complex
Region	1 – 1035	Interaction with USE1

Literature citations
Neuroblastoma amplified sequence gene is associated with a novel short stature syndrome characterised by optic nerve atrophy and Pelger-Huet anomaly.
Maksimova N.; Hara K.; Nikolaeva I.; Chun-Feng T.; Usui T.; Takagi M.; Nishihira Y.; Miyashita A.; Fujiwara H.; Oyama T.; Nogovicina A.; Sukhomyasova A.; Potapova S.; Kuwano R.; Takahashi H.; Nishizawa M.; Onodera O.;
J. Med. Genet. 47:538-548(2010)
Cited for: SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT SOPH HIS-1914; VARIANTS GLU-44; LEU-949 AND SER-1009;

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.