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Q8IWC1 (MA7D3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
MAP7 domain-containing protein 3
Gene names
Name:MAP7D3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length876 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subcellular location

Cytoplasmcytoskeletonspindle. Note: Localizes to the microtubules throughout mitosis. Ref.6

Sequence similarities

Belongs to the MAP7 family.

Sequence caution

The sequence AAH64350.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.

The sequence CAM21578.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IWC1-1)

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: Q8IWC1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     246-286: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q8IWC1-3)

The sequence of this isoform differs from the canonical sequence as follows:
     179-214: ANKRSASTEKLEQGTSALIRQMPLSSAGLQNSVAKR → G
Note: No experimental confirmation available.
Isoform 4 (identifier: Q8IWC1-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-23: MMADGAAAGAGGSPSLRELRARM → MTSPR
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 876876MAP7 domain-containing protein 3
PRO_0000306812

Regions

Coiled coil65 – 14480 Potential
Coiled coil558 – 64083 Potential
Coiled coil689 – 72436 Potential

Amino acid modifications

Modified residue11N-acetylmethionine Ref.13
Modified residue3221Phosphoserine Ref.7
Modified residue4571Phosphoserine Ref.7
Modified residue4611Phosphoserine Ref.7
Modified residue5241Phosphoserine Ref.7
Modified residue7701Phosphoserine Ref.10

Natural variations

Alternative sequence1 – 2323MMADG…LRARM → MTSPR in isoform 4.
VSP_045008
Alternative sequence179 – 21436ANKRS…SVAKR → G in isoform 3.
VSP_028498
Alternative sequence246 – 28641Missing in isoform 2.
VSP_028499
Natural variant5021E → A. Ref.5
Corresponds to variant rs1055497 [ dbSNP | Ensembl ].
VAR_035314
Natural variant6281Q → R. Ref.5
Corresponds to variant rs2273221 [ dbSNP | Ensembl ].
VAR_035315

Experimental info

Sequence conflict711L → S in BAG62994. Ref.1
Sequence conflict4471K → R in BAG62994. Ref.1
Sequence conflict4481A → T in AAH40518. Ref.5
Sequence conflict6231R → Q in AL832120. Ref.2

Sequences

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

Last modified October 2, 2007. Version 2.
Checksum: C149899FB0002B39

FASTA87698,429
        10         20         30         40         50         60 
MMADGAAAGA GGSPSLRELR ARMVAAANEI AKERRKQDVV NRVATHSSNI RSTFKPVIDG 

        70         80         90        100        110        120 
SMLKNDIKQR LARERREEKR RQQDANKETQ LLEKERKTKL QYEKQMEERQ RKLKERKEKE 

       130        140        150        160        170        180 
EQRRIAAEEK RHQKDEAQKE KFTAILYRTL ERRRLADDYQ QKRWSWGGSA MANSESKTAN 

       190        200        210        220        230        240 
KRSASTEKLE QGTSALIRQM PLSSAGLQNS VAKRKTDKER SSSLNRRDSN LHSSTDKEQA 

       250        260        270        280        290        300 
ERKPRVTGVT NYVMQYVTVP LRKCTSDELR AVMFPMSTMK IPPQTKVEES PLEKVETPPK 

       310        320        330        340        350        360 
ASVDAPPQVN VEVFCNTSME ASPKAGVGMA PEVSTDSFPV VSVDVSPVVS TYDSEMSMDA 

       370        380        390        400        410        420 
SPELSIEALP KVDLETVPKV SIVASPEASL EAPPEVSLEA LPEVSVEAAP EGSLEAPPKG 

       430        440        450        460        470        480 
SAEVAPKESV KGSPKESMEA SPEAMVKASP KTSLEASMEA SPKAKARDAP KKSEMDKQAL 

       490        500        510        520        530        540 
IPIAKKRLSS YTECYKWSSS PENACGLPSP ISTNRQIQKN CPPSPLPLIS KQSPQTSFPY 

       550        560        570        580        590        600 
KIMPIQHTLS VQSASSTVKK KKETVSKTTN RCEALSQRHM IYEESGNKST AGIMNAEAAT 

       610        620        630        640        650        660 
KILTELRRLA REQREKEEEE RQREEMQQRV IKKSKDMAKE AVGGQAEDHL KLKDGQQQNE 

       670        680        690        700        710        720 
TKKKKGWLDQ EDQEAPLQKG DAKIKAQEEA DKRKKEHERI MLQNLQERLE RKKRIEEIMK 

       730        740        750        760        770        780 
RTRKTDVNAS KVTETSSHDI YEEAEADNEE SDKDSLNEMF PSAILNGTGS PTKFKMPFNN 

       790        800        810        820        830        840 
AKKMTHKLVF LEDGTSQVRK EPKTYFNGDL KNFRQKSMKD TSIQEVVSRP SSKRMTSHTT 

       850        860        870 
KTRKADETNT TSRSSAQTKS EGFHDILPKS SDTFRQ 

« Hide

Isoform 2 [UniParc].

Checksum: 636105ADE4362780
Show »

FASTA83593,785
Isoform 3 [UniParc].

Checksum: 991CB99A9EA667C2
Show »

FASTA84194,675
Isoform 4 [UniParc].

Checksum: 46B3C99CFE457147
Show »

FASTA85896,743

References

« Hide 'large scale' references
[1]"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] (ISOFORM 4), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 701-876 (ISOFORMS 1/2/3).
Tissue: Synovium and Teratocarcinoma.
[2]"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] (ISOFORM 3).
Tissue: Cervix.
[3]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [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].
[5]"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] (ISOFORMS 1 AND 2), VARIANTS ALA-502 AND ARG-628.
Tissue: Brain and Prostate.
[6]"Proteome analysis of the human mitotic spindle."
Sauer G., Koerner R., Hanisch A., Ries A., Nigg E.A., Sillje H.H.W.
Mol. Cell. Proteomics 4:35-43(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, IDENTIFICATION BY MASS SPECTROMETRY.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-322; SER-457; SER-461 AND SER-524, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[10]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-770, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"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].
[12]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK022711 mRNA. Translation: BAB14195.1.
AK301478 mRNA. Translation: BAG62994.1.
AL832120 mRNA. No translation available.
AL078638 Genomic DNA. Translation: CAI41063.2.
AL078638 Genomic DNA. Translation: CAI41064.2.
AL078638 Genomic DNA. Translation: CAM21578.1. Sequence problems.
CH471150 Genomic DNA. Translation: EAW88475.1.
BC040518 mRNA. Translation: AAH40518.1.
BC064350 mRNA. Translation: AAH64350.1. Sequence problems.
RefSeqNP_001166987.1. NM_001173516.1.
NP_001166988.1. NM_001173517.1.
NP_078873.2. NM_024597.3.
UniGeneHs.446275.

3D structure databases

ProteinModelPortalQ8IWC1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122777. 4 interactions.
IntActQ8IWC1. 1 interaction.
MINTMINT-4990235.
STRING9606.ENSP00000318086.

PTM databases

PhosphoSiteQ8IWC1.

Polymorphism databases

DMDM158705880.

Proteomic databases

PaxDbQ8IWC1.
PRIDEQ8IWC1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000316077; ENSP00000318086; ENSG00000129680. [Q8IWC1-1]
ENST00000370661; ENSP00000359695; ENSG00000129680. [Q8IWC1-3]
ENST00000370663; ENSP00000359697; ENSG00000129680. [Q8IWC1-4]
GeneID79649.
KEGGhsa:79649.
UCSCuc004ezs.3. human. [Q8IWC1-3]
uc004ezt.3. human. [Q8IWC1-1]
uc010nsa.2. human. [Q8IWC1-2]

Organism-specific databases

CTD79649.
GeneCardsGC0XM135295.
H-InvDBHIX0017079.
HGNCHGNC:25742. MAP7D3.
HPAHPA035598.
neXtProtNX_Q8IWC1.
PharmGKBPA162394972.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG113680.
HOVERGENHBG103577.
InParanoidQ8IWC1.
KOK16807.
OMAQQDANKE.
OrthoDBEOG761BTS.
PhylomeDBQ8IWC1.
TreeFamTF332273.

Gene expression databases

BgeeQ8IWC1.
CleanExHS_MAP7D3.
GenevestigatorQ8IWC1.

Family and domain databases

InterProIPR008604. MAP7.
[Graphical view]
PANTHERPTHR15073. PTHR15073. 1 hit.
PfamPF05672. MAP7. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi79649.
NextBio68800.
PROQ8IWC1.

Entry information

Entry nameMA7D3_HUMAN
AccessionPrimary (citable) accession number: Q8IWC1
Secondary accession number(s): A2A2J0 expand/collapse secondary AC list , A6NCZ7, A6NHR4, B4DWD2, H7BY77, Q5JXI5, Q5JXI6, Q6P2S1, Q9H9M8
Entry history
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 2, 2007
Last modified: April 16, 2014
This is version 82 of the entry and version 2 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

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 X

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