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P11150 (LIPC_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 162. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hepatic triacylglycerol lipase

Short name=HL
Short name=Hepatic lipase
EC=3.1.1.3
Alternative name(s):
Lipase member C
Gene names
Name:LIPC
Synonyms:HTGL
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length499 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Hepatic lipase has the capacity to catalyze hydrolysis of phospholipids, mono-, di-, and triglycerides, and acyl-CoA thioesters. It is an important enzyme in HDL metabolism. Hepatic lipase binds heparin.

Catalytic activity

Triacylglycerol + H2O = diacylglycerol + a carboxylate.

Subcellular location

Secreted.

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 non-insulin-dependent diabetes mellitus susceptibility (NIDDM susceptibility) [MIM:125853].

Involvement in disease

Hepatic lipase deficiency (HL deficiency) [MIM:614025]: A disorder characterized by elevated levels of beta-migrating very low density lipoproteins, and abnormally triglyceride-rich low and high density lipoproteins.
Note: The disease is caused by mutations affecting the gene represented in this entry.

Sequence similarities

Belongs to the AB hydrolase superfamily. Lipase family.

Contains 1 PLAT domain.

Ontologies

Keywords
   Biological processLipid degradation
Lipid metabolism
   Cellular componentHDL
Secreted
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainSignal
   LigandHeparin-binding
   Molecular functionHydrolase
   PTMGlycoprotein
   Technical termComplete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processcholesterol homeostasis

Inferred from mutant phenotype PubMed 1883393. Source: BHF-UCL

cholesterol metabolic process

Inferred from electronic annotation. Source: Ensembl

chylomicron remnant clearance

Traceable author statement PubMed 9685400. Source: BHF-UCL

fatty acid biosynthetic process

Inferred from direct assay PubMed 182536. Source: BHF-UCL

high-density lipoprotein particle remodeling

Inferred from mutant phenotype PubMed 3244012. Source: BHF-UCL

intermediate-density lipoprotein particle remodeling

Traceable author statement Ref.3. Source: BHF-UCL

low-density lipoprotein particle remodeling

Inferred from mutant phenotype PubMed 3244012. Source: BHF-UCL

phosphatidylcholine catabolic process

Traceable author statement Ref.3. Source: BHF-UCL

reverse cholesterol transport

Inferred by curator PubMed 14531818. Source: BHF-UCL

triglyceride catabolic process

Inferred from direct assay PubMed 182536Ref.3PubMed 8640403. Source: BHF-UCL

triglyceride homeostasis

Inferred from mutant phenotype PubMed 1883393. Source: BHF-UCL

very-low-density lipoprotein particle remodeling

Inferred from direct assay PubMed 8640403. Source: BHF-UCL

   Cellular_componentextracellular space

Inferred from direct assay Ref.3. Source: BHF-UCL

high-density lipoprotein particle

Inferred from electronic annotation. Source: UniProtKB-KW

   Molecular_functionapolipoprotein binding

Inferred from sequence or structural similarity. Source: BHF-UCL

heparin binding

Inferred from electronic annotation. Source: UniProtKB-KW

low-density lipoprotein particle binding

Inferred from sequence or structural similarity. Source: BHF-UCL

phospholipase activity

Traceable author statement PubMed 3244012. Source: BHF-UCL

triglyceride lipase activity

Inferred from direct assay PubMed 182536Ref.3. Source: BHF-UCL

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222
Chain23 – 499477Hepatic triacylglycerol lipase
PRO_0000017769

Regions

Domain352 – 486135PLAT
Region181 – 19313Heparin-binding Potential

Sites

Active site1681Nucleophile By similarity
Active site1941Charge relay system By similarity
Active site2791Charge relay system By similarity

Amino acid modifications

Glycosylation421N-linked (GlcNAc...) Potential
Glycosylation781N-linked (GlcNAc...) Potential
Glycosylation3621N-linked (GlcNAc...) Potential
Glycosylation3971N-linked (GlcNAc...) Potential

Natural variations

Natural variant951V → M. Ref.15 Ref.17
Corresponds to variant rs6078 [ dbSNP | Ensembl ].
VAR_004206
Natural variant1341V → VHYTVAV in HL deficiency.
VAR_004207
Natural variant2151N → S. Ref.1 Ref.2 Ref.5 Ref.6 Ref.15 Ref.17
Corresponds to variant rs6083 [ dbSNP | Ensembl ].
VAR_004208
Natural variant2891S → F in HL deficiency. Ref.13 Ref.17
Corresponds to variant rs121912502 [ dbSNP | Ensembl ].
VAR_004209
Natural variant3421V → I. Ref.17
Corresponds to variant rs145811475 [ dbSNP | Ensembl ].
VAR_017024
Natural variant3561F → L. Ref.1 Ref.2 Ref.3 Ref.4 Ref.5 Ref.6 Ref.8 Ref.17
Corresponds to variant rs3829462 [ dbSNP | Ensembl ].
VAR_017025
Natural variant4051T → M in HL deficiency. Ref.13 Ref.17
Corresponds to variant rs28933094 [ dbSNP | Ensembl ].
VAR_004210
Natural variant4091D → A. Ref.17
Corresponds to variant rs142036980 [ dbSNP | Ensembl ].
VAR_017026
Natural variant4401S → N. Ref.15
Corresponds to variant rs6079 [ dbSNP | Ensembl ].
VAR_014179

Experimental info

Sequence conflict2561F → S in AAA61165. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P11150 [UniParc].

Last modified January 11, 2011. Version 3.
Checksum: 1FC7567CAE3E514B

FASTA49955,914
        10         20         30         40         50         60 
MDTSPLCFSI LLVLCIFIQS SALGQSLKPE PFGRRAQAVE TNKTLHEMKT RFLLFGETNQ 

        70         80         90        100        110        120 
GCQIRINHPD TLQECGFNSS LPLVMIIHGW SVDGVLENWI WQMVAALKSQ PAQPVNVGLV 

       130        140        150        160        170        180 
DWITLAHDHY TIAVRNTRLV GKEVAALLRW LEESVQLSRS HVHLIGYSLG AHVSGFAGSS 

       190        200        210        220        230        240 
IGGTHKIGRI TGLDAAGPLF EGSAPSNRLS PDDANFVDAI HTFTREHMGL SVGIKQPIGH 

       250        260        270        280        290        300 
YDFYPNGGSF QPGCHFLELY RHIAQHGFNA ITQTIKCSHE RSVHLFIDSL LHAGTQSMAY 

       310        320        330        340        350        360 
PCGDMNSFSQ GLCLSCKKGR CNTLGYHVRQ EPRSKSKRLF LVTRAQSPFK VYHYQFKIQF 

       370        380        390        400        410        420 
INQTETPIQT TFTMSLLGTK EKMQKIPITL GKGIASNKTY SFLITLDVDI GELIMIKFKW 

       430        440        450        460        470        480 
ENSAVWANVW DTVQTIIPWS TGPRHSGLVL KTIRVKAGET QQRMTFCSEN TDDLLLRPTQ 

       490 
EKIFVKCEIK SKTSKRKIR 

« Hide

References

« Hide 'large scale' references
[1]"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) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS SER-215 AND LEU-356.
Tissue: Liver.
[2]"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) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS SER-215 AND LEU-356.
Tissue: Liver.
[3]"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) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], PARTIAL PROTEIN SEQUENCE, VARIANT LEU-356.
Tissue: Liver.
[4]"Structure of the human hepatic triglyceride lipase gene."
Cai S.J., Wong D.M., Chen S.H., Chan L.
Biochemistry 28:8966-8971(1989) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT LEU-356.
[5]"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) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-215 AND LEU-356.
[6]"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. expand/collapse author list , 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) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANTS SER-215 AND LEU-356.
Tissue: Kidney and Thymus.
[7]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"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) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT LEU-356.
[9]"18 bp insertion/duplication with internal missense mutation in human hepatic lipase gene exon 3."
Tiebel O., Gehrisch S., Pietzsch J., Gromeier S., Jaross W.
Hum. Mutat. 12:216-216(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 92-152, VARIANT HL DEFICIENCY HIS-TYR-THR-VAL-ALA-VAL-134 INS.
[10]"Identification of a BstNI polymorphism in exon 9 of the human hepatic triglyceride lipase gene."
Takagi A., Ikeda Y., Mori A., Ashida Y., Yamamoto A.
Mol. Cell. Probes 10:313-314(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 464-499.
[11]"The G-250A promoter polymorphism of the hepatic lipase gene predicts the conversion from impaired glucose tolerance to type 2 diabetes mellitus: the Finnish diabetes prevention study."
Todorova B., Kubaszek A., Pihlajamaki J., Lindstrom J., Eriksson J., Valle T.T., Hamalainen H., Ilanne-Parikka P., Keinanen-Kiukaanniemi S., Tuomilehto J., Uusitupa M., Laakso M.
J. Clin. Endocrinol. Metab. 89:2019-2023(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: ASSOCIATION WITH NIDDM SUSCEPTIBILITY.
[12]"The -250G>A promoter variant in hepatic lipase associates with elevated fasting serum high-density lipoprotein cholesterol modulated by interaction with physical activity in a study of 16,156 Danish subjects."
Grarup N., Andreasen C.H., Andersen M.K., Albrechtsen A., Sandbaek A., Lauritzen T., Borch-Johnsen K., Jorgensen T., Schmitz O., Hansen T., Pedersen O.
J. Clin. Endocrinol. Metab. 93:2294-2299(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN HDLCQ12.
[13]"Human hepatic lipase mutations and polymorphisms."
Hegele R.A., Tu L., Connelly P.W.
Hum. Mutat. 1:320-324(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HL DEFICIENCY PHE-289 AND MET-405.
[14]"Genetic variants affecting human lipoprotein and hepatic lipases."
Hayden M.R., Ma Y., Brunzell J., Henderson H.E.
Curr. Opin. Lipidol. 2:104-109(1991)
Cited for: REVIEW ON POLYMORPHISM.
[15]"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.
Nat. Genet. 22:231-238(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MET-95; SER-215 AND ASN-440.
[16]Erratum
Cargill M., Altshuler D., Ireland J., Sklar P., Ardlie K., Patil N., Shaw N., Lane C.R., Lim E.P., Kalyanaraman N., Nemesh J., Ziaugra L., Friedland L., Rolfe A., Warrington J., Lipshutz R., Daley G.Q., Lander E.S.
Nat. Genet. 23:373-373(1999)
[17]"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) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MET-95; SER-215; PHE-289; ILE-342; LEU-356; MET-405 AND ALA-409.
+Additional computationally mapped references.

Web resources

SHMPD

The Singapore human mutation and polymorphism database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
D83548 mRNA. Translation: BAA12014.1.
X07228 mRNA. Translation: CAA30188.1.
J03540 mRNA. Translation: AAA59520.1.
J03895 mRNA. Translation: AAA61165.1.
M29194 expand/collapse EMBL AC list , M29186, M29187, M29188, M29189, M29190, M29191, M29192, M29193 Genomic DNA. Translation: AAB60702.1.
D83062 Genomic DNA. Translation: BAA11760.1.
M35433 expand/collapse EMBL AC list , M35425, M35426, M35427, M35429, M35430, M35431, M35432 Genomic DNA. Translation: AAA59521.1.
AK292631 mRNA. Translation: BAF85320.1.
AK315306 mRNA. Translation: BAG37710.1.
AC018904 Genomic DNA. No translation available.
AC084781 Genomic DNA. No translation available.
BC132825 mRNA. Translation: AAI32826.1.
BC136495 mRNA. Translation: AAI36496.1.
AF037404 Genomic DNA. Translation: AAC34206.1.
PIRA28997.
RefSeqNP_000227.2. NM_000236.2.
XP_005254429.1. XM_005254372.1.
UniGeneHs.654472.

3D structure databases

ProteinModelPortalP11150.
SMRP11150. Positions 20-471.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110178. 4 interactions.
IntActP11150. 1 interaction.
STRING9606.ENSP00000299022.

Chemistry

BindingDBP11150.
ChEMBLCHEMBL2127.

PTM databases

PhosphoSiteP11150.

Polymorphism databases

DMDM317373430.

Proteomic databases

PaxDbP11150.
PRIDEP11150.

Protocols and materials databases

DNASU3990.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000299022; ENSP00000299022; ENSG00000166035.
ENST00000356113; ENSP00000348425; ENSG00000166035.
GeneID3990.
KEGGhsa:3990.
UCSCuc002afa.2. human.

Organism-specific databases

CTD3990.
GeneCardsGC15P058702.
H-InvDBHIX0038150.
HGNCHGNC:6619. LIPC.
HPACAB016141.
MIM125853. phenotype.
151670. gene.
612797. phenotype.
614025. phenotype.
neXtProtNX_P11150.
Orphanet140905. Hyperlipidemia due to hepatic triglyceride lipase deficiency.
PharmGKBPA230.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG81747.
HOGENOMHOG000038553.
HOVERGENHBG002259.
InParanoidP11150.
KOK01046.
OrthoDBEOG757CX5.
PhylomeDBP11150.
TreeFamTF324997.

Gene expression databases

ArrayExpressP11150.
BgeeP11150.
CleanExHS_LIPC.
GenevestigatorP11150.

Family and domain databases

Gene3D2.60.60.20. 1 hit.
InterProIPR000734. Lipase.
IPR002333. Lipase_hep.
IPR008976. Lipase_LipOase.
IPR013818. Lipase_N.
IPR016272. Lipoprotein_lipase_LIPH.
IPR001024. PLAT/LH2_dom.
[Graphical view]
PANTHERPTHR11610. PTHR11610. 1 hit.
PTHR11610:SF2. PTHR11610:SF2. 1 hit.
PfamPF00151. Lipase. 1 hit.
PF01477. PLAT. 1 hit.
[Graphical view]
PIRSFPIRSF000865. Lipoprotein_lipase_LIPH. 1 hit.
PRINTSPR00824. HEPLIPASE.
PR00821. TAGLIPASE.
SMARTSM00308. LH2. 1 hit.
[Graphical view]
SUPFAMSSF49723. SSF49723. 1 hit.
PROSITEPS00120. LIPASE_SER. 1 hit.
PS50095. PLAT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSLIPC. human.
GeneWikiHepatic_lipase.
GenomeRNAi3990.
NextBio15652.
PROP11150.
SOURCESearch...

Entry information

Entry nameLIPC_HUMAN
AccessionPrimary (citable) accession number: P11150
Secondary accession number(s): A2RUB4 expand/collapse secondary AC list , A8K9B6, O43571, P78529, Q99465
Entry history
Integrated into UniProtKB/Swiss-Prot: July 1, 1989
Last sequence update: January 11, 2011
Last modified: April 16, 2014
This is version 162 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM