UniProtKB/Swiss-Prot P11150: Variant p.Phe356Leu

Hepatic triacylglycerol lipase
Gene: LIPC
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Variant information Variant position:

356 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 Phenylalanine (F) to Leucine (L) at position 356 (F356L, p.Phe356Leu). 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 large size and aromatic (F) to medium size and hydrophobic (L) 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
Polymorphism:

Genetic variations in LIPC define the high density lipoprotein cholesterol level quantitative trait locus 12 (HDLCQ12) [MIM:612797].Genetic variations in LIPC are associated with susceptibility to type 2 diabetes mellitus (T2D) [MIM:125853]. - Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs3829462 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SKRLFLVTRAQSPFKVYHYQ F KIQFINQTETPIQTTFTMSL 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                         SKRLFLVTRAQSPFKVYHYQFKIQFINQTETPIQTTFTMSL

Mouse                         SKRLFLITRAQSPFKVYHYQFKIQFINQIEKPVEPTFTMSL

Rat                           SKTLFLITRAQSPFKVYHYQFKIQFINQMEKPMEPTFTMTL

Bovine                        SKSLFLVTRAQSPFKVYHYQFKIRFINQTENPVEPTFTVSF

Rabbit                        GKRLFLVTQAQSPFRVYHYQFKIQFINQIEKPLEPTFTMSL

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	23 – 499	Hepatic triacylglycerol lipase
Domain	352 – 486	PLAT
Glycosylation	362 – 362	N-linked (GlcNAc...) asparagine

Literature citations
Human hepatic triglyceride lipase: cDNA cloning, amino acid sequence and expression in a cultured cell line.
Stahnke G.; Sprengel R.; Augustin J.; Will H.;
Differentiation 35:45-52(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; SUBCELLULAR LOCATION; VARIANTS SER-215 AND LEU-356; Human hepatic lipase. Cloned cDNA sequence, restriction fragment length polymorphisms, chromosomal localization, and evolutionary relationships with lipoprotein lipase and pancreatic lipase.
Datta S.; Luo C.C.; Li W.H.; VanTuinen P.; Ledbetter D.H.; Brown M.A.; Chen S.H.; Liu S.; Chan L.;
J. Biol. Chem. 263:1107-1110(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS SER-215 AND LEU-356; Isolation and cDNA sequence of human postheparin plasma hepatic triglyceride lipase.
Martin G.A.; Busch S.J.; Meredith G.D.; Cardin A.D.; Blankenship D.T.; Mao S.J.T.; Rechtin A.E.; Woods C.W.; Racke M.M.; Schafer M.P.; Fitzgerald M.C.; Burke D.M.; Flanagan M.A.; Jackson R.L.;
J. Biol. Chem. 263:10907-10914(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; PROTEIN SEQUENCE OF N-TERMINUS; PARTIAL PROTEIN SEQUENCE; VARIANT LEU-356; Structure of the human hepatic triglyceride lipase gene.
Cai S.J.; Wong D.M.; Chen S.H.; Chan L.;
Biochemistry 28:8966-8971(1989)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT LEU-356; Isolation and characterization of the human hepatic lipase gene.
Ameis D.; Stahnke G.; Kobayashi J.; McLean J.; Lee G.; Buscher M.; Schotz M.C.; Will H.;
J. Biol. Chem. 265:6552-6555(1990)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS SER-215 AND LEU-356; 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]; VARIANTS SER-215 AND LEU-356; 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 LEU-356; Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors.
Morabia A.; Cayanis E.; Costanza M.C.; Ross B.M.; Flaherty M.S.; Alvin G.B.; Das K.; Gilliam T.C.;
Hum. Mol. Genet. 12:2733-2743(2003)
Cited for: VARIANTS MET-95; SER-215; PHE-289; ILE-342; LEU-356; MET-405 AND ALA-409;

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