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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O14791: Variant p.Glu150Lys

Apolipoprotein L1
Gene: APOL1
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Variant information Variant position: help 150
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Lysine (K) at position 150 (E150K, p.Glu150Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 150
Protein sequence length: help 398
Location on the sequence: help HDKGQQYRNWFLKEFPRLKS E LEDNIRRLRALADGVQKVHK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 28 – 398 Apolipoprotein L1
Helix 134 – 158



Literature citations
Apolipoprotein L, a new human high density lipoprotein apolipoprotein expressed by the pancreas. Identification, cloning, characterization, and plasma distribution of apolipoprotein L.
Duchateau P.N.; Pullinger C.R.; Orellana R.E.; Kunitake S.T.; Naya-Vigne J.; O'Connor P.M.; Malloy M.J.; Kane J.P.;
J. Biol. Chem. 272:25576-25582(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); PROTEIN SEQUENCE OF 28-63; VARIANTS LYS-150; ILE-228 AND LYS-255; Apolipoprotein L gene family: tissue-specific expression, splicing, promoter regions; discovery of a new gene.
Duchateau P.N.; Pullinger C.R.; Cho M.H.; Eng C.; Kane J.P.;
J. Lipid Res. 42:620-630(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); SEQUENCE REVISION TO 155 AND 346; VARIANTS LYS-150; ILE-228 AND LYS-255; 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 3); VARIANTS LYS-150; ILE-228 AND LYS-255;
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.