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Q9NP72 (RAB18_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 143. 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:
Ras-related protein Rab-18
Gene names
Name:RAB18
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length206 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Plays a role in apical endocytosis/recycling. May be implicated in transport between the plasma membrane and early endosomes. Plays a key role in eye and brain development and neurodegeneration. Ref.19

Subcellular location

Cell membrane; Lipid-anchor; Cytoplasmic side Potential.

Tissue specificity

Ubiquitous.

Involvement in disease

Warburg micro syndrome 3 (WARBM3) [MIM:614222]: A rare syndrome characterized by microcephaly, microphthalmia, microcornia, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.19

Sequence similarities

Belongs to the small GTPase superfamily. Rab family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Q99IB85EBI-722247,EBI-6927873From a different organism.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NP72-1)

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: Q9NP72-2)

The sequence of this isoform differs from the canonical sequence as follows:
     62-62: W → WVTLHQQTANFFLKSQIGNSPILKWAMWQY
Note: Highly expressed in testis.
Isoform 3 (identifier: Q9NP72-3)

The sequence of this isoform differs from the canonical sequence as follows:
     63-126: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 203203Ras-related protein Rab-18
PRO_0000121193
Propeptide204 – 2063Removed in mature form Potential
PRO_0000370761

Regions

Nucleotide binding15 – 239GTP
Nucleotide binding63 – 675GTP
Nucleotide binding122 – 1254GTP
Nucleotide binding151 – 1533GTP
Motif37 – 459Effector region By similarity

Amino acid modifications

Modified residue11N-acetylmethionine Ref.15 Ref.17
Modified residue2031Cysteine methyl ester Potential
Lipidation1991S-palmitoyl cysteine Potential
Lipidation2031S-geranylgeranyl cysteine By similarity

Natural variations

Alternative sequence621W → WVTLHQQTANFFLKSQIGNS PILKWAMWQY in isoform 2.
VSP_043912
Alternative sequence63 – 12664Missing in isoform 3.
VSP_044883
Natural variant241L → Q in WARBM3. Ref.19
VAR_066495
Natural variant931Missing in WARBM3. Ref.19
VAR_066496
Natural variant1131N → S.
Corresponds to variant rs12268932 [ dbSNP | Ensembl ].
VAR_051713
Natural variant1981A → T.
Corresponds to variant rs11015859 [ dbSNP | Ensembl ].
VAR_034432

Experimental info

Sequence conflict611I → L in BAD96873. Ref.11

Secondary structure

................................. 206
Helix Strand Turn

Details...

Sequences

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

Last modified October 1, 2000. Version 1.
Checksum: D1B0F4866547DF77

FASTA20622,977
        10         20         30         40         50         60 
MDEDVLTTLK ILIIGESGVG KSSLLLRFTD DTFDPELAAT IGVDFKVKTI SVDGNKAKLA 

        70         80         90        100        110        120 
IWDTAGQERF RTLTPSYYRG AQGVILVYDV TRRDTFVKLD NWLNELETYC TRNDIVNMLV 

       130        140        150        160        170        180 
GNKIDKENRE VDRNEGLKFA RKHSMLFIEA SAKTCDGVQC AFEELVEKII QTPGLWESEN 

       190        200 
QNKGVKLSHR EEGQGGGACG GYCSVL 

« Hide

Isoform 2 [UniParc].

Checksum: 3E11FA232CFEDCFF
Show »

FASTA23526,410
Isoform 3 [UniParc].

Checksum: 9B8066F80314F7A0
Show »

FASTA14215,508

References

« Hide 'large scale' references
[1]"In silico cloning of the human Rab18 gene."
Chikri M.M., Boutin M.P., Vaxillaire M.M., Froguel M.P.
Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Isolation and characterisation of the human rab18 gene after stimulation of endothelial cells with histamine."
Schaefer U., Seibold S., Schneider A., Neugebauer E.
FEBS Lett. 466:148-154(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]"Cloning and characterization of a novel splice variant of human Rab18 gene (RAB18)."
Dou T., Ji C., Gu S., Chen F., Xu J., Ye X., Ying K., Xie Y., Mao Y.
DNA Seq. 16:230-234(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING.
[4]"Cloning and expression of a novel human cDNA homologous to murine ras-related protein (rab18) mRNA."
Cui W.C., Yu L., Liu Q., Lin W., Han X.F., Zhao S.Y.
Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[5]"cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
Puhl H.L. III, Ikeda S.R., Aronstam R.S.
Submitted (APR-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[6]"Gene expression profiling in the human hypothalamus-pituitary-adrenal axis and full-length cDNA cloning."
Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X., Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W., Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M. expand/collapse author list , Zhou J., Xu S.-H., Gu J., Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z., Chen M.-D., Chen J.-L.
Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Adrenal gland.
[7]"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 1).
Tissue: Testis.
[8]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[9]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
[10]"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] (ISOFORMS 1 AND 3).
Tissue: Corpus callosum.
[11]Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Lung.
[12]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[13]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].
[14]"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] (ISOFORM 1).
Tissue: Hippocampus and Skin.
[15]Bienvenut W.V., Waridel P., Quadroni M.
Submitted (MAR-2009) to UniProtKB
Cited for: PROTEIN SEQUENCE OF 1-21; 59-69 AND 99-123, ACETYLATION AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY.
Tissue: Embryonic kidney.
[16]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[17]"Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features."
Bienvenut W.V., Sumpton D., Martinez A., Lilla S., Espagne C., Meinnel T., Giglione C.
Mol. Cell. Proteomics 11:M111.015131-M111.015131(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[18]"Crystal structure of human RAB18 in complex with GPPNHP."
RIKEN structural genomics initiative (RSGI)
Submitted (FEB-2009) to the PDB data bank
Cited for: X-RAY CRYSTALLOGRAPHY (1.32 ANGSTROMS) OF 1-184 IN COMPLEX WITH GTP ANALOG.
[19]"Loss-of-function mutations in RAB18 cause Warburg micro syndrome."
Bem D., Yoshimura S., Nunes-Bastos R., Bond F.C., Kurian M.A., Rahman F., Handley M.T., Hadzhiev Y., Masood I., Straatman-Iwanowska A.A., Cullinane A.R., McNeill A., Pasha S.S., Kirby G.A., Foster K., Ahmed Z., Morton J.E., Williams D. expand/collapse author list , Graham J.M., Dobyns W.B., Burglen L., Ainsworth J.R., Gissen P., Muller F., Maher E.R., Barr F.A., Aligianis I.A.
Am. J. Hum. Genet. 88:499-507(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS WARBM3 GLN-24 AND ARG-93 DEL, FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ277145 expand/collapse EMBL AC list , AJ277146, AJ277147, AJ277148, AJ277149 Genomic DNA. Translation: CAB86486.1.
AF137372 mRNA. Translation: AAF61433.1.
AY574034 mRNA. Translation: AAU08232.1.
AF087860 mRNA. Translation: AAP97170.1.
AF498950 mRNA. Translation: AAM21098.1.
AF136974 mRNA. Translation: AAG49435.1.
AL136734 mRNA. Translation: CAB66668.1.
BT009840 mRNA. Translation: AAP88842.1.
CR533455 mRNA. Translation: CAG38486.1.
AK001555 mRNA. Translation: BAG50939.1.
AK295443 mRNA. Translation: BAH12069.1.
AK223153 mRNA. Translation: BAD96873.1.
AL138920 Genomic DNA. Translation: CAH70590.1.
CH471072 Genomic DNA. Translation: EAW86054.1.
CH471072 Genomic DNA. Translation: EAW86055.1.
BC015014 mRNA. Translation: AAH15014.1.
BC029350 mRNA. Translation: AAH29350.1.
CCDSCCDS58073.1. [Q9NP72-3]
CCDS7155.1. [Q9NP72-1]
RefSeqNP_001243339.1. NM_001256410.1. [Q9NP72-2]
NP_001243340.1. NM_001256411.1.
NP_001243341.1. NM_001256412.1. [Q9NP72-3]
NP_001243344.1. NM_001256415.1.
NP_067075.1. NM_021252.4. [Q9NP72-1]
UniGeneHs.406799.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1X3SX-ray1.32A1-182[»]
ProteinModelPortalQ9NP72.
SMRQ9NP72. Positions 2-178.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116591. 7 interactions.
DIPDIP-60514N.
IntActQ9NP72. 7 interactions.
MINTMINT-5003598.
STRING9606.ENSP00000349415.

PTM databases

PhosphoSiteQ9NP72.

Polymorphism databases

DMDM12230528.

Proteomic databases

MaxQBQ9NP72.
PaxDbQ9NP72.
PRIDEQ9NP72.

Protocols and materials databases

DNASU22931.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000356940; ENSP00000349415; ENSG00000099246. [Q9NP72-1]
ENST00000535776; ENSP00000439321; ENSG00000099246. [Q9NP72-3]
GeneID22931.
KEGGhsa:22931.
UCSCuc001itv.4. human. [Q9NP72-1]
uc001itw.4. human. [Q9NP72-2]
uc010qdr.3. human.

Organism-specific databases

CTD22931.
GeneCardsGC10P027793.
HGNCHGNC:14244. RAB18.
HPAHPA025928.
MIM602207. gene.
614222. phenotype.
neXtProtNX_Q9NP72.
Orphanet2510. Micro syndrome.
PharmGKBPA34106.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1100.
HOGENOMHOG000233968.
HOVERGENHBG009351.
KOK07910.
OMATYTTRND.
OrthoDBEOG7CVQ04.
PhylomeDBQ9NP72.
TreeFamTF313448.

Gene expression databases

ArrayExpressQ9NP72.
BgeeQ9NP72.
CleanExHS_RAB18.
GenevestigatorQ9NP72.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR027417. P-loop_NTPase.
IPR025662. Sigma_54_int_dom_ATP-bd_1.
IPR005225. Small_GTP-bd_dom.
IPR001806. Small_GTPase.
IPR003579. Small_GTPase_Rab_type.
[Graphical view]
PfamPF00071. Ras. 1 hit.
[Graphical view]
PRINTSPR00449. RASTRNSFRMNG.
SMARTSM00175. RAB. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 1 hit.
TIGRFAMsTIGR00231. small_GTP. 1 hit.
PROSITEPS51419. RAB. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSRAB18. human.
EvolutionaryTraceQ9NP72.
GeneWikiRAB18.
GenomeRNAi22931.
NextBio43659.
PROQ9NP72.
SOURCESearch...

Entry information

Entry nameRAB18_HUMAN
AccessionPrimary (citable) accession number: Q9NP72
Secondary accession number(s): B3KMC7 expand/collapse secondary AC list , B7Z333, D3DRW1, Q53FX8, Q56UN9, Q6FIH1
Entry history
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: October 1, 2000
Last modified: July 9, 2014
This is version 143 of the entry and version 1 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 10

Human chromosome 10: entries, gene names and cross-references to MIM