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UniProtKB/Swiss-Prot P26718: Variant p.Ala72Thr

NKG2-D type II integral membrane protein
Gene: KLRK1
Chromosomal location: 12p12.2-p13.3
Variant information

Variant position:  72
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Alanine (A) to Threonine (T) at position 72 (A72T, p.Ala72Thr).
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 small size and hydrophobic (A) to medium size and polar (T)
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

Variant description:  In allele NKG2-D*02.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  72
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  216
The length of the canonical sequence.

Location on the sequence:   PFFFCCFIAVAMGIRFIIMV  A IWSAVFLNSLFNQEVQIPLT
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                         PFFFCCFIAVAMGIRFIIMVAIWSAVFLN----SLFNQEVQIPLT

Rhesus macaque                PLFFCCFIAVAMGIRFIIMVTIWSAVFLN----SLFNQEVQ

Chimpanzee                    PFFFCCFIAVAMGIRFIIMVTIWSAVFLN----SLFNQEVQ

Mouse                         PMFVVRVLAIALAIRFTLNTLMWLAIFKETFQPVLCNKEVP

Rat                           PLFVVRVLVAAMTIRFTVITLTWLAVFIT----LLCNKEVS

Pig                           PFFLARSIAIAMGIRFIVMVMIYSGMIIN----LLFNQEAP

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 – 216 NKG2-D type II integral membrane protein
Transmembrane 52 – 72 Helical; Signal-anchor for type II membrane protein
Mutagenesis 66 – 66 R -> A. Inhibits association with the HCST signaling dimer.


Literature citations

Conservation and variation in human and common chimpanzee CD94 and NKG2 genes.
Shum B.P.; Flodin L.R.; Muir D.G.; Rajalingam R.; Khakoo S.I.; Cleland S.; Guethlein L.A.; Uhrberg M.; Parham P.;
J. Immunol. 168:240-252(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT THR-72;

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 THR-72;

The finished DNA sequence of human chromosome 12.
Scherer S.E.; Muzny D.M.; Buhay C.J.; Chen R.; Cree A.; Ding Y.; Dugan-Rocha S.; Gill R.; Gunaratne P.; Harris R.A.; Hawes A.C.; Hernandez J.; Hodgson A.V.; Hume J.; Jackson A.; Khan Z.M.; Kovar-Smith C.; Lewis L.R.; Lozado R.J.; Metzker M.L.; Milosavljevic A.; Miner G.R.; Montgomery K.T.; Morgan M.B.; Nazareth L.V.; Scott G.; Sodergren E.; Song X.-Z.; Steffen D.; Lovering R.C.; Wheeler D.A.; Worley K.C.; Yuan Y.; Zhang Z.; Adams C.Q.; Ansari-Lari M.A.; Ayele M.; Brown M.J.; Chen G.; Chen Z.; Clerc-Blankenburg K.P.; Davis C.; Delgado O.; Dinh H.H.; Draper H.; Gonzalez-Garay M.L.; Havlak P.; Jackson L.R.; Jacob L.S.; Kelly S.H.; Li L.; Li Z.; Liu J.; Liu W.; Lu J.; Maheshwari M.; Nguyen B.-V.; Okwuonu G.O.; Pasternak S.; Perez L.M.; Plopper F.J.H.; Santibanez J.; Shen H.; Tabor P.E.; Verduzco D.; Waldron L.; Wang Q.; Williams G.A.; Zhang J.; Zhou J.; Allen C.C.; Amin A.G.; Anyalebechi V.; Bailey M.; Barbaria J.A.; Bimage K.E.; Bryant N.P.; Burch P.E.; Burkett C.E.; Burrell K.L.; Calderon E.; Cardenas V.; Carter K.; Casias K.; Cavazos I.; Cavazos S.R.; Ceasar H.; Chacko J.; Chan S.N.; Chavez D.; Christopoulos C.; Chu J.; Cockrell R.; Cox C.D.; Dang M.; Dathorne S.R.; David R.; Davis C.M.; Davy-Carroll L.; Deshazo D.R.; Donlin J.E.; D'Souza L.; Eaves K.A.; Egan A.; Emery-Cohen A.J.; Escotto M.; Flagg N.; Forbes L.D.; Gabisi A.M.; Garza M.; Hamilton C.; Henderson N.; Hernandez O.; Hines S.; Hogues M.E.; Huang M.; Idlebird D.G.; Johnson R.; Jolivet A.; Jones S.; Kagan R.; King L.M.; Leal B.; Lebow H.; Lee S.; LeVan J.M.; Lewis L.C.; London P.; Lorensuhewa L.M.; Loulseged H.; Lovett D.A.; Lucier A.; Lucier R.L.; Ma J.; Madu R.C.; Mapua P.; Martindale A.D.; Martinez E.; Massey E.; Mawhiney S.; Meador M.G.; Mendez S.; Mercado C.; Mercado I.C.; Merritt C.E.; Miner Z.L.; Minja E.; Mitchell T.; Mohabbat F.; Mohabbat K.; Montgomery B.; Moore N.; Morris S.; Munidasa M.; Ngo R.N.; Nguyen N.B.; Nickerson E.; Nwaokelemeh O.O.; Nwokenkwo S.; Obregon M.; Oguh M.; Oragunye N.; Oviedo R.J.; Parish B.J.; Parker D.N.; Parrish J.; Parks K.L.; Paul H.A.; Payton B.A.; Perez A.; Perrin W.; Pickens A.; Primus E.L.; Pu L.-L.; Puazo M.; Quiles M.M.; Quiroz J.B.; Rabata D.; Reeves K.; Ruiz S.J.; Shao H.; Sisson I.; Sonaike T.; Sorelle R.P.; Sutton A.E.; Svatek A.F.; Svetz L.A.; Tamerisa K.S.; Taylor T.R.; Teague B.; Thomas N.; Thorn R.D.; Trejos Z.Y.; Trevino B.K.; Ukegbu O.N.; Urban J.B.; Vasquez L.I.; Vera V.A.; Villasana D.M.; Wang L.; Ward-Moore S.; Warren J.T.; Wei X.; White F.; Williamson A.L.; Wleczyk R.; Wooden H.S.; Wooden S.H.; Yen J.; Yoon L.; Yoon V.; Zorrilla S.E.; Nelson D.; Kucherlapati R.; Weinstock G.; Gibbs R.A.;
Nature 440:346-351(2006)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT THR-72;

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 THR-72;

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.