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UniProtKB/Swiss-Prot Q13562: Variant p.Thr45Ala

Neurogenic differentiation factor 1
Gene: NEUROD1
Variant information

Variant position:  45
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 Alanine (A) at position 45 (T45A, p.Thr45Ala).
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 small size and hydrophobic (A)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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.



Sequence information

Variant position:  45
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  356
The length of the canonical sequence.

Location on the sequence:   ECLSSQDEEHEADKKEDDLE  T MNAEEDSLRNGGEEEDEDED
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                         ECLSSQDEEHEADKKEDDLETM--NAEEDSL--RNGGEEEDEDE--D

Mouse                         ECLSSQDEEHEADKKEDELEAM--NAEEDSL--RNGGEEEE

Rat                           ECLSSQDEEHEADKKEDELEAM--NAEEDSL--RNGGEEED

Chicken                       GCLSPPADGPEADKKEEDLEALHGEAEEDAL--RNGEEEDE

Xenopus laevis                ECLSSQDE-NDLEKKEGEL-MK--EDDEDSLNHHNGEENEE

Zebrafish                     KCHSSSQDERDVDKTSEPMLNDMEDDDDAGL-------NRL

Caenorhabditis elegans        -----------------------------------------

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.

TypePositionsDescription
Chain 1 – 356 Neurogenic differentiation factor 1
Region 1 – 94 Disordered
Compositional bias 27 – 53 Basic and acidic residues


Literature citations

The NEUROD gene maps to human chromosome 2q32 and mouse chromosome 2.
Tamimi R.; Steingrimsson E.; Copeland N.G.; Dyer-Montgomery K.; Lee J.E.; Hernandez R.; Jenkins N.A.; Tapscott S.J.;
Genomics 34:418-421(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-45;

Molecular cloning of a human neuroD from a neuroblastoma cell line specifically expressed in the fetal brain and adult cerebellum.
Yokoyama M.; Nishi Y.; Miyamoto Y.; Nakamura M.; Akiyama K.; Matsubara K.; Okubo K.;
Brain Res. Mol. Brain Res. 42:135-139(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ALA-45;

Submission
Furuta H.; Horikawa Y.; Iwasaki N.; Hara M.; Sussel L.; le Beau M.M.; Davis E.M.; Ogata M.; Iwamoto Y.; German M.S.; Bell G.I.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-45;

Structure and regulation of the human NeuroD (BETA2/BHF1) gene.
Miyachi T.; Maruyama H.; Kitamura T.; Nakamura S.; Kawakami H.;
Brain Res. Mol. Brain Res. 69:223-231(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-45;

Submission
Noma T.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-45;

Ala45Thr mutation of the human BETA2 gene.
Kuroe A.; Yamada Y.; Kubota A.; Someya Y.; Iwakura T.; Watanabe R.; Inada A.; Miyawaki K.; Ban N.; Ihara Y.; Seino Y.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-45;

Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ALA-45;

Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
Oshikawa M.; Tsutsui C.; Ikegami T.; Fuchida Y.; Matsubara M.; Toyama S.; Usami R.; Ohtoko K.; Kato S.;
Invest. Ophthalmol. Vis. Sci. 52:6662-6670(2011)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ALA-45;

Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ALA-45;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ALA-45;

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.