Sequence information
Variant position: 394 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 824 The length of the canonical sequence.
Location on the sequence:
LHSSALKDKGSSLEPRQHFN
T LDVGASGLNTSHSPSASSRS
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 LHSSALKDKGSSLEPRQHFNT LDVGASGLNTSHSPSASSRS
Mouse MHPSAVKEKDSSLEPPQPFNA LDMGASGLPSSPSPSASSRS
Chicken V-SSALKDSGSSLDPEQHFNA LDIGASILSASRTPSVSSRS
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 – 824
Neuronal PAS domain-containing protein 2
Region
367 – 437
Disordered
Compositional bias
388 – 435
Polar residues
Literature citations
Molecular characterization of two mammalian bHLH-PAS domain proteins selectively expressed in the central nervous system.
Zhou Y.-D.; Barnard M.; Tian H.; Li X.; Ring H.Z.; Francke U.; Shelton J.; Richardson J.; Russell D.W.; McKnight S.L.;
Proc. Natl. Acad. Sci. U.S.A. 94:713-718(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS ALA-394 AND LEU-471;
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-394;
Characterization of a subset of the basic-helix-loop-helix-PAS superfamily that interacts with components of the dioxin signaling pathway.
Hogenesch J.B.; Chan W.K.; Jackiw V.H.; Brown R.C.; Gu Y.-Z.; Pray-Grant M.; Perdew G.H.; Bradfield C.A.;
J. Biol. Chem. 272:8581-8593(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-626; VARIANT ALA-394;
Ala394Thr polymorphism in the clock gene NPAS2: a circadian modifier for the risk of non-Hodgkin's lymphoma.
Zhu Y.; Leaderer D.; Guss C.; Brown H.N.; Zhang Y.; Boyle P.; Stevens R.G.; Hoffman A.; Qin Q.; Han X.; Zheng T.;
Int. J. Cancer 120:432-435(2007)
Cited for: VARIANT ALA-394;
Non-synonymous polymorphisms in the circadian gene NPAS2 and breast cancer risk.
Zhu Y.; Stevens R.G.; Leaderer D.; Hoffman A.; Holford T.; Zhang Y.; Brown H.N.; Zheng T.;
Breast Cancer Res. Treat. 107:421-425(2008)
Cited for: VARIANT ALA-394;
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.