UniProtKB/Swiss-Prot P20591: Variant p.Val379Ile

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 379 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 Valine (V) to Isoleucine (I) at position 379 (V379I, p.Val379Ile). 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: Similar physico-chemical property. Both residues are medium size and hydrophobic. 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
Other resources: Links to websites of interest for the variant.

• Variant rs469390 [ dbSNP | Ensembl ]

Sequence information

Variant position: 379 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 662 The length of the canonical sequence.
Location on the sequence: KYGVDIPEDENEKMFFLIDK V NAFNQDITALMQGEETVGEE 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.
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 – 662	Interferon-induced GTP-binding protein Mx1
Chain	2 – 662	Interferon-induced GTP-binding protein Mx1, N-terminally processed
Region	366 – 533	Middle domain
Region	367 – 632	Stalk
Helix	367 – 390

Literature citations

cDNA structures and regulation of two interferon-induced human Mx proteins.
Aebi M.; Faeh J.; Hurt N.; Samuel C.E.; Thomis D.; Bazzigher L.; Pavlovic J.; Haller O.; Staeheli P.;
Mol. Cell. Biol. 9:5062-5072(1989)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ILE-379; Cloning and sequence analyses of cDNAs for interferon- and virus-induced human Mx proteins reveal that they contain putative guanine nucleotide-binding sites: functional study of the corresponding gene promoter.
Horisberger M.A.; McMaster G.K.; Zeller H.; Wathelet M.G.; Dellis J.; Content J.;
J. Virol. 64:1171-1181(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ILE-379; Structure and polymorphism of the human gene for the interferon-induced p78 protein (MX1): evidence of association with alopecia areata in the Down syndrome region.
Tazi-Ahnini R.; di Giovine F.S.; McDonagh A.J.; Messenger A.G.; Amadou C.; Cox A.; Duff G.W.; Cork M.J.;
Hum. Genet. 106:639-645(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ILE-379; POSSIBLE INVOLVEMENT IN ALLOPECIA AREATA; 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 1); VARIANT ILE-379; The DNA sequence of human chromosome 21.
Hattori M.; Fujiyama A.; Taylor T.D.; Watanabe H.; Yada T.; Park H.-S.; Toyoda A.; Ishii K.; Totoki Y.; Choi D.-K.; Groner Y.; Soeda E.; Ohki M.; Takagi T.; Sakaki Y.; Taudien S.; Blechschmidt K.; Polley A.; Menzel U.; Delabar J.; Kumpf K.; Lehmann R.; Patterson D.; Reichwald K.; Rump A.; Schillhabel M.; Schudy A.; Zimmermann W.; Rosenthal A.; Kudoh J.; Shibuya K.; Kawasaki K.; Asakawa S.; Shintani A.; Sasaki T.; Nagamine K.; Mitsuyama S.; Antonarakis S.E.; Minoshima S.; Shimizu N.; Nordsiek G.; Hornischer K.; Brandt P.; Scharfe M.; Schoen O.; Desario A.; Reichelt J.; Kauer G.; Bloecker H.; Ramser J.; Beck A.; Klages S.; Hennig S.; Riesselmann L.; Dagand E.; Wehrmeyer S.; Borzym K.; Gardiner K.; Nizetic D.; Francis F.; Lehrach H.; Reinhardt R.; Yaspo M.-L.;
Nature 405:311-319(2000)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ILE-379; 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] (ISOFORM 1); VARIANT ILE-379;