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Q8TCU6 (PREX1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein

Short name=P-Rex1
Short name=PtdIns(3,4,5)-dependent Rac exchanger 1
Gene names
Name:PREX1
Synonyms:KIAA1415
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1659 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Functions as a RAC guanine nucleotide exchange factor (GEF), which activates the Rac proteins by exchanging bound GDP for free GTP. Its activity is synergistically activated by phosphatidylinositol 3,4,5-trisphosphate and the beta gamma subunits of heterotrimeric G protein. May function downstream of heterotrimeric G proteins in neutrophils.

Subunit structure

Interacts preferentially with RAC2 By similarity. Interacts with RAC1.

Subcellular location

Cytoplasmcytosol. Cell membrane. Note: Mainly cytosolic. Some amount is apparently associated to the plasma membrane.

Tissue specificity

Mainly expressed in peripheral blood leukocytes and brain. Expressed at intermediate level in spleen and lymph nodes, and weakly expressed in other tissues.

Sequence similarities

Contains 2 DEP domains.

Contains 1 DH (DBL-homology) domain.

Contains 1 PDZ (DHR) domain.

Contains 1 PH domain.

Ontologies

Keywords
   Cellular componentCell membrane
Cytoplasm
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   Molecular functionGuanine-nucleotide releasing factor
   Technical term3D-structure
Complete proteome
Direct protein sequencing
Reference proteome
Gene Ontology (GO)
   Biological_processactin filament polymerization

Traceable author statement PubMed 12123595. Source: UniProtKB

intracellular signal transduction

Inferred from electronic annotation. Source: InterPro

neutrophil activation

Traceable author statement PubMed 12123595. Source: UniProtKB

positive regulation of Rho GTPase activity

Traceable author statement PubMed 12123595. Source: GOC

regulation of Rho GTPase activity

Traceable author statement PubMed 12123595. Source: GOC

regulation of actin filament polymerization

Inferred from electronic annotation. Source: Ensembl

regulation of dendrite development

Inferred from electronic annotation. Source: Ensembl

superoxide metabolic process

Traceable author statement PubMed 12123595. Source: UniProtKB

   Cellular_componentcytoplasm

Inferred from direct assay. Source: HPA

cytosol

Inferred from direct assay Ref.1. Source: UniProtKB

dendritic shaft

Inferred from electronic annotation. Source: Ensembl

growth cone

Inferred from electronic annotation. Source: Ensembl

intracellular membrane-bounded organelle

Inferred from direct assay. Source: HPA

perinuclear region of cytoplasm

Inferred from electronic annotation. Source: Ensembl

plasma membrane

Traceable author statement PubMed 12123595. Source: UniProtKB

   Molecular_functionRho GTPase activator activity

Traceable author statement PubMed 12123595. Source: UniProtKB

Rho guanyl-nucleotide exchange factor activity

Traceable author statement PubMed 12123595. Source: UniProtKB

enzyme binding

Traceable author statement PubMed 12123595. Source: UniProtKB

phospholipid binding

Inferred from direct assay Ref.1. Source: UniProtKB

Complete GO annotation...

Binary interactions

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8TCU6-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8TCU6-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-703: Missing.
     704-708: TKAKE → MGLEQ
Isoform 3 (identifier: Q8TCU6-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1471-1561: VLENVEGLPS...PKPGAAGSVG → GELQAWGRED...TCPRMPAPRR
     1562-1659: Missing.
Note: Gene prediction based on EST data. No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 16591659Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein
PRO_0000080965

Regions

Domain49 – 240192DH
Domain271 – 392122PH
Domain421 – 49676DEP 1
Domain523 – 59775DEP 2
Domain625 – 70379PDZ

Natural variations

Alternative sequence1 – 703703Missing in isoform 2.
VSP_001818
Alternative sequence704 – 7085TKAKE → MGLEQ in isoform 2.
VSP_001819
Alternative sequence1471 – 156191VLENV…AGSVG → GELQAWGREDHGGRAKATKH TGSQPPARPRHLPSQCWRTW RGCLLQAARPRRICSRTSTR SPWRKFSSITANSGHFTWSG LTCPRMPAPRR in isoform 3.
VSP_015090
Alternative sequence1562 – 165998Missing in isoform 3.
VSP_015091
Natural variant6591V → M. Ref.8
Corresponds to variant rs55904123 [ dbSNP | Ensembl ].
VAR_061798
Natural variant6961R → C.
Corresponds to variant rs7271583 [ dbSNP | Ensembl ].
VAR_057191
Natural variant7861Q → H. Ref.8
Corresponds to variant rs41283558 [ dbSNP | Ensembl ].
VAR_061799
Natural variant11181A → T. Ref.1
Corresponds to variant rs6012504 [ dbSNP | Ensembl ].
VAR_057192
Natural variant12401V → I. Ref.8
Corresponds to variant rs16993997 [ dbSNP | Ensembl ].
VAR_023210
Natural variant13401K → E. Ref.1 Ref.4 Ref.5 Ref.7 Ref.8
Corresponds to variant rs2664521 [ dbSNP | Ensembl ].
VAR_023211
Natural variant15591S → T.
Corresponds to variant rs3936192 [ dbSNP | Ensembl ].
VAR_023212

Experimental info

Sequence conflict9101A → V in CAB66514. Ref.2

Secondary structure

................... 1659
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 29, 2007. Version 3.
Checksum: 159419355ED0F00F

FASTA1,659186,203
        10         20         30         40         50         60 
MEAPSGSEPG GDGAGDCAHP DPRAPGAAAP SSGPGPCAAA RESERQLRLR LCVLNEILGT 

        70         80         90        100        110        120 
ERDYVGTLRF LQSAFLHRIR QNVADSVEKG LTEENVKVLF SNIEDILEVH KDFLAALEYC 

       130        140        150        160        170        180 
LHPEPQSQHE LGNVFLKFKD KFCVYEEYCS NHEKALRLLV ELNKIPTVRA FLLSCMLLGG 

       190        200        210        220        230        240 
RKTTDIPLEG YLLSPIQRIC KYPLLLKELA KRTPGKHPDH PAVQSALQAM KTVCSNINET 

       250        260        270        280        290        300 
KRQMEKLEAL EQLQSHIEGW EGSNLTDICT QLLLQGTLLK ISAGNIQERA FFLFDNLLVY 

       310        320        330        340        350        360 
CKRKSRVTGS KKSTKRTKSI NGSLYIFRGR INTEVMEVEN VEDGTADYHS NGYTVTNGWK 

       370        380        390        400        410        420 
IHNTAKNKWF VCMAKTAEEK QKWLDAIIRE REQRESLKLG MERDAYVMIA EKGEKLYHMM 

       430        440        450        460        470        480 
MNKKVNLIKD RRRKLSTVPK CFLGNEFVAW LLEIGEISKT EEGVNLGQAL LENGIIHHVS 

       490        500        510        520        530        540 
DKHQFKNEQV MYRFRYDDGT YKARSELEDI MSKGVRLYCR LHSLYTPVIK DRDYHLKTYK 

       550        560        570        580        590        600 
SVLPGSKLVD WLLAQGDCQT REEAVALGVG LCNNGFMHHV LEKSEFRDES QYFRFHADEE 

       610        620        630        640        650        660 
MEGTSSKNKQ LRNDFKLVEN ILAKRLLILP QEEDYGFDIE EKNKAVVVKS VQRGSLAEVA 

       670        680        690        700        710        720 
GLQVGRKIYS INEDLVFLRP FSEVESILNQ SFCSRRPLRL LVATKAKEII KIPDQPDTLC 

       730        740        750        760        770        780 
FQIRGAAPPY VYAVGRGSEA MAAGLCAGQC ILKVNGSNVM NDGAPEVLEH FQAFRSRREE 

       790        800        810        820        830        840 
ALGLYQWIYH THEDAQEARA SQEASTEDPS GEQAQEEDQA DSAFPLLSLG PRLSLCEDSP 

       850        860        870        880        890        900 
MVTLTVDNVH LEHGVVYEYV STAGVRCHVL EKIVEPRGCF GLTAKILEAF AANDSVFVEN 

       910        920        930        940        950        960 
CRRLMALSSA IVTMPHFEFR NICDTKLESI GQRIACYQEF AAQLKSRVSP PFKQAPLEPH 

       970        980        990       1000       1010       1020 
PLCGLDFCPT NCHINLMEVS YPKTTPSVGR SFSIRFGRKP SLIGLDPEQG HLNPMSYTQH 

      1030       1040       1050       1060       1070       1080 
CITTMAAPSW KCLPAAEGDP QGQGLHDGSF GPASGTLGQE DRGLSFLLKQ EDREIQDAYL 

      1090       1100       1110       1120       1130       1140 
QLFTKLDVAL KEMKQYVTQI NRLLSTITEP TSGGSCDASL AEEASSLPLV SEESEMDRSD 

      1150       1160       1170       1180       1190       1200 
HGGIKKVCFK VAEEDQEDSG HDTMSYRDSY SECNSNRDSV LSYTSVRSNS SYLGSDEMGS 

      1210       1220       1230       1240       1250       1260 
GDELPCDMRI PSDKQDKLHG CLEHLFNQVD SINALLKGPV MSRAFEETKH FPMNHSLQEF 

      1270       1280       1290       1300       1310       1320 
KQKEECTIRG RSLIQISIQE DPWNLPNSIK TLVDNIQRYV EDGKNQLLLA LLKCTDTELQ 

      1330       1340       1350       1360       1370       1380 
LRRDAIFCQA LVAAVCTFSK QLLAALGYRY NNNGEYEESS RDASRKWLEQ VAATGVLLHC 

      1390       1400       1410       1420       1430       1440 
QSLLSPATVK EERTMLEDIW VTLSELDNVT FSFKQLDENY VANTNVFYHI EGSRQALKVI 

      1450       1460       1470       1480       1490       1500 
FYLDSYHFSK LPSRLEGGAS LRLHTALFTK VLENVEGLPS PGSQAAEDLQ QDINAQSLEK 

      1510       1520       1530       1540       1550       1560 
VQQYYRKLRA FYLERSNLPT DASTTAVKID QLIRPINALD ELCRLMKSFV HPKPGAAGSV 

      1570       1580       1590       1600       1610       1620 
GAGLIPISSE LCYRLGACQM VMCGTGMQRS TLSVSLEQAA ILARSHGLLP KCIMQATDIM 

      1630       1640       1650 
RKQGPRVEIL AKNLRVKDQM PQGAPRLYRL CQPPVDGDL 

« Hide

Isoform 2 [UniParc].

Checksum: E2DCA9099F0CE2C7
Show »

FASTA956106,093
Isoform 3 [UniParc].

Checksum: CACDE55657E3A86D
Show »

FASTA1,561175,847

References

« Hide 'large scale' references
[1]"P-Rex1, a PtdIns(3,4,5)P3- and Gbetagamma-regulated guanine-nucleotide exchange factor for Rac."
Welch H.C.E., Coadwell W.J., Ellson C.D., Ferguson G.J., Andrews S.R., Erdjument-Bromage H., Tempst P., Hawkins P.T., Stephens L.R.
Cell 108:809-821(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), PROTEIN SEQUENCE OF 182-198; 913-920; 1463-1470; 1501-1506 AND 1590-1604, CHARACTERIZATION, VARIANTS THR-1118 AND GLU-1340.
[2]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Amygdala.
[3]"The DNA sequence and comparative analysis of human chromosome 20."
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. expand/collapse author list , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]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. expand/collapse author list , 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.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-1340.
[5]"Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 39-1659 (ISOFORM 1), VARIANT GLU-1340.
Tissue: Brain.
[6]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION.
[7]"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] OF 177-1659 (ISOFORM 1), VARIANT GLU-1340.
Tissue: Eye.
[8]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 337-1659 (ISOFORM 1), VARIANTS MET-659; HIS-786; ILE-1240 AND GLU-1340.
Tissue: Melanoma.
[9]"Crystal structure of the first PDZ domain of PREX1."
Structural genomics consortium (SGC)
Submitted (FEB-2011) to the PDB data bank
Cited for: X-RAY CRYSTALLOGRAPHY (2.28 ANGSTROMS) OF 607-706.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ320261 mRNA. Translation: CAC86401.1.
AL136579 mRNA. Translation: CAB66514.1.
AL133342, AL035106, AL445192 Genomic DNA. Translation: CAI23274.1.
AL445192, AL035106, AL133342 Genomic DNA. Translation: CAI39886.1.
AL035106, AL445192, AL133342 Genomic DNA. Translation: CAI43186.1.
AB037836 mRNA. Translation: BAA92653.2.
CH471077 Genomic DNA. Translation: EAW75684.1.
CH471077 Genomic DNA. Translation: EAW75685.1.
BC053616 mRNA. Translation: AAH53616.1.
AL832913 mRNA. Translation: CAH10614.1.
RefSeqNP_065871.2. NM_020820.3.
XP_005260528.1. XM_005260471.1.
UniGeneHs.153310.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
3QIKX-ray2.28A607-706[»]
ProteinModelPortalQ8TCU6.
SMRQ8TCU6. Positions 26-393, 409-498, 508-599, 607-776.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121633. 8 interactions.
IntActQ8TCU6. 11 interactions.
MINTMINT-1649307.

PTM databases

PhosphoSiteQ8TCU6.

Polymorphism databases

DMDM148886999.

Proteomic databases

PaxDbQ8TCU6.
PRIDEQ8TCU6.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000371941; ENSP00000361009; ENSG00000124126. [Q8TCU6-1]
ENST00000396220; ENSP00000379522; ENSG00000124126. [Q8TCU6-3]
GeneID57580.
KEGGhsa:57580.
UCSCuc002xtv.1. human. [Q8TCU6-2]
uc002xtw.1. human. [Q8TCU6-1]

Organism-specific databases

CTD57580.
GeneCardsGC20M047240.
H-InvDBHIX0138059.
HGNCHGNC:32594. PREX1.
HPAHPA001927.
MIM606905. gene.
neXtProtNX_Q8TCU6.
PharmGKBPA164725018.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5422.
HOVERGENHBG053677.
InParanoidQ8TCU6.
KOK12365.
OMAFKNEQVM.
PhylomeDBQ8TCU6.
TreeFamTF328639.

Gene expression databases

BgeeQ8TCU6.
GenevestigatorQ8TCU6.

Family and domain databases

Gene3D1.10.10.10. 2 hits.
1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
2.30.42.10. 2 hits.
InterProIPR000591. DEP_dom.
IPR000219. DH-domain.
IPR001331. GDS_CDC24_CS.
IPR001478. PDZ.
IPR011993. PH_like_dom.
IPR001849. Pleckstrin_homology.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamPF00610. DEP. 2 hits.
PF00169. PH. 1 hit.
PF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTSM00049. DEP. 2 hits.
SM00228. PDZ. 2 hits.
SM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMSSF48065. SSF48065. 1 hit.
SSF50156. SSF50156. 2 hits.
PROSITEPS50186. DEP. 2 hits.
PS00741. DH_1. 1 hit.
PS50010. DH_2. 1 hit.
PS50106. PDZ. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceQ8TCU6.
GeneWikiPREX1.
GenomeRNAi57580.
NextBio64135.
PROQ8TCU6.
SOURCESearch...

Entry information

Entry namePREX1_HUMAN
AccessionPrimary (citable) accession number: Q8TCU6
Secondary accession number(s): E1P5X9 expand/collapse secondary AC list , Q5JS95, Q5JS96, Q69YL2, Q7Z2L9, Q9BQH0, Q9BX55, Q9H4Q6, Q9P2D2, Q9UGQ4
Entry history
Integrated into UniProtKB/Swiss-Prot: January 17, 2003
Last sequence update: May 29, 2007
Last modified: April 16, 2014
This is version 128 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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 20

Human chromosome 20: entries, gene names and cross-references to MIM