UniProtKB/Swiss-Prot Q6W5P4: Variant p.Asn107Ile

Neuropeptide S receptor
Gene: NPSR1
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Variant information Variant position:

107 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 Asparagine (N) to Isoleucine (I) at position 107 (N107I, p.Asn107Ile). 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 (N) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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
Polymorphism:

Genetic variations in NPSR1 are associated with the familial natural short sleep 3 (FNSS3) phenotype, an autosomal dominant trait [MIM:621336]. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group. Usually, they have a lifelong tendency to sleep only 4 to 6 hours per night, while still feeling well rested. Additional information on the polymorphism described.
Variant description:

Increases cell surface expression and NPS-dependent calcium mobilization; does not affect affinity for NPS. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs324981 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

VTQLAITDSFTGLVNILTDI N WRFTGDFTAPDLVCRVVRYL 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                         VTQLAITDSFTGLVNILTDINWRFTGDFTAPDLVCRVVRYL

Rhesus macaque                VTQLAITDSFTGLVNILTDIIWRFTGDFMAPDLVCRVVRYL

Mouse                         VTQLAITDSFTGLINILTDIIWRFTGDFMAPDLVCRVVRYL

Rat                           VTQLAITDSFTGLINILTDIIWRFTGDFMAPDLVCRIVRYL

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 – 371	Neuropeptide S receptor
Topological domain	104 – 123	Extracellular
Alternative sequence	94 – 159	Missing. In isoform 2.
Alternative sequence	94 – 158	DSFTGLVNILTDINWRFTGDFTAPDLVCRVVRYLQVVLLYASTYVLVSLSIDRYHAIVYPMKFLQ -> GCAALRLYLRPGVPQHRQIPCHRLPHEVPSRRKASQGPHCDRLEPVFSVLHSHPDHIWEEDTVQR. In isoform 6.
Alternative sequence	94 – 94	D -> V. In isoform 9.
Alternative sequence	95 – 371	Missing. In isoform 9.

Literature citations
Characterization of a common susceptibility locus for asthma-related traits.
Laitinen T.; Polvi A.; Rydman P.; Vendelin J.; Pulkkinen V.; Salmikangas P.; Maekelae S.; Rehn M.; Pirskanen A.; Rautanen A.; Zucchelli M.; Gullsten H.; Leino M.; Alenius H.; Petaeys T.; Haahtela T.; Laitinen A.; Laprise C.; Hudson T.J.; Laitinen L.A.; Kere J.;
Science 304:300-304(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 4); VARIANT ILE-107; TISSUE SPECIFICITY;
Human neuropeptide S receptor isoforms A and G: nucleotide and deduced amino acid sequence.
Uebele V.N.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3); VARIANT ILE-107;
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] (ISOFORM 8); VARIANT ILE-107;
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-107; GLN-122; GLY-143; PHE-197; ILE-212; ARG-241; THR-315 AND ARG-344;
Structure-function relationships in the neuropeptide S receptor: molecular consequences of the asthma-associated mutation N107I.
Bernier V.; Stocco R.; Bogusky M.J.; Joyce J.G.; Parachoniak C.; Grenier K.; Arget M.; Mathieu M.C.; O'Neill G.P.; Slipetz D.; Crackower M.A.; Tan C.M.; Therien A.G.;
J. Biol. Chem. 281:24704-24712(2006)
Cited for: CHARACTERIZATION OF VARIANT ILE-107; SUBCELLULAR LOCATION; FUNCTION;

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.