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Q6ZRI0 (OTOG_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 85. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Otogelin
Gene names
Name:OTOG
Synonyms:OTGN
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2925 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes By similarity.

Subcellular location

Apical cell membrane; Peripheral membrane protein; Extracellular side By similarity. Secretedextracellular space By similarity. Note: Found in fiber-like structures during the maturation process of the tectorial membrane By similarity.

Post-translational modification

N-glycosylated By similarity. Not O-glycosylated By similarity.

Involvement in disease

Deafness, autosomal recessive, 18B (DFNB18B) [MIM:614945]: A form of non-syndromic deafness characterized by a moderate hearing impairment, which can be associated with vestibular dysfunction, and a flat to shallow "U" or slightly downsloping shaped audiograms.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.3

Sequence similarities

Belongs to the otogelin family.

Contains 1 CTCK (C-terminal cystine knot-like) domain.

Contains 1 EGF-like domain.

Contains 1 TIL (trypsin inhibitory-like) domain.

Contains 4 VWFD domains.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q6ZRI0-1)

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.
Note: No experimental confirmation available.
Isoform 2 (identifier: Q6ZRI0-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-985: Missing.
     986-1014: CTAYGDRHYRTFDGLPFDFVGACKVHLVK → MFPARGVPLHLEGEGVFPWGPGDVSLPYL
     1240-1249: PYDCDFFNKV → L
     2434-2575: Missing.
     2644-2644: E → G
     2645-2925: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2222 Potential
Chain23 – 29252903Otogelin
PRO_0000312148

Regions

Domain102 – 13938EGF-like
Domain151 – 353203VWFD 1
Domain513 – 727215VWFD 2
Domain768 – 83265TIL
Domain985 – 1187203VWFD 3
Domain2111 – 2323213VWFD 4
Domain2840 – 292586CTCK
Compositional bias1482 – 1880399Pro-rich
Compositional bias2499 – 2647149Cys-rich

Amino acid modifications

Glycosylation9141N-linked (GlcNAc...) Potential
Glycosylation14781N-linked (GlcNAc...) Potential
Glycosylation16121N-linked (GlcNAc...) Potential
Disulfide bond106 ↔ 120 By similarity
Disulfide bond114 ↔ ?126 By similarity
Disulfide bond128 ↔ 138 By similarity
Disulfide bond2840 ↔ 2889 By similarity
Disulfide bond2854 ↔ 2903 By similarity
Disulfide bond2865 ↔ 2920 By similarity
Disulfide bond2869 ↔ 2922 By similarity

Natural variations

Alternative sequence1 – 985985Missing in isoform 2.
VSP_029709
Alternative sequence986 – 101429CTAYG…VHLVK → MFPARGVPLHLEGEGVFPWG PGDVSLPYL in isoform 2.
VSP_029710
Alternative sequence1240 – 124910PYDCDFFNKV → L in isoform 2.
VSP_029711
Alternative sequence2434 – 2575142Missing in isoform 2.
VSP_029712
Alternative sequence26441E → G in isoform 2.
VSP_029713
Alternative sequence2645 – 2925281Missing in isoform 2.
VSP_029714
Natural variant3751T → S.
Corresponds to variant rs7130190 [ dbSNP | Ensembl ].
VAR_037406
Natural variant3911A → D.
Corresponds to variant rs61611064 [ dbSNP | Ensembl ].
VAR_061161
Natural variant6591T → M.
Corresponds to variant rs7112749 [ dbSNP | Ensembl ].
VAR_037407
Natural variant6921S → P.
Corresponds to variant rs7106548 [ dbSNP | Ensembl ].
VAR_037408
Natural variant9191A → T.
Corresponds to variant rs2355466 [ dbSNP | Ensembl ].
VAR_037409
Natural variant10751R → Q.
Corresponds to variant rs11024333 [ dbSNP | Ensembl ].
VAR_037410
Natural variant11121A → V.
Corresponds to variant rs7936324 [ dbSNP | Ensembl ].
VAR_037411
Natural variant11291P → L.
Corresponds to variant rs7936354 [ dbSNP | Ensembl ].
VAR_037412
Natural variant13991A → G.
Corresponds to variant rs4491195 [ dbSNP | Ensembl ].
VAR_037413
Natural variant16461P → L.
Corresponds to variant rs2041028 [ dbSNP | Ensembl ].
VAR_037414
Natural variant18321A → V.
Corresponds to variant rs1003490 [ dbSNP | Ensembl ].
VAR_037415
Natural variant19471T → M.
Corresponds to variant rs7111528 [ dbSNP | Ensembl ].
VAR_037416
Natural variant20061A → V.
Corresponds to variant rs11024341 [ dbSNP | Ensembl ].
VAR_047262
Natural variant21161P → L in DFNB18B. Ref.3
VAR_069250
Natural variant27501R → Q.
Corresponds to variant rs12422210 [ dbSNP | Ensembl ].
VAR_037417
Natural variant29091W → S.
Corresponds to variant rs11024357 [ dbSNP | Ensembl ].
VAR_037418

Experimental info

Sequence conflict13751A → P in BAC87330. Ref.1
Sequence conflict21211V → A in BAC87330. Ref.1

Sequences

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

Last modified November 25, 2008. Version 3.
Checksum: D3555CAA3D9AE5FA

FASTA2,925314,794
        10         20         30         40         50         60 
MGVLASALCW LLCVWLPWGE QAAESLRVQR LGERVVDSGR SGARGMRNVK GMRNGPAQTR 

        70         80         90        100        110        120 
VSSSSSHQEA TLAMGDKATV VGGQQAEAPD SVAMSSWERR LHRAKCAPSY LFSCFNGGEC 

       130        140        150        160        170        180 
VHPAFCDCRR FNATGPRCQM VYNAGPERDS ICRAWGQHHV ETFDGLYYYL SGKGSYTLVG 

       190        200        210        220        230        240 
RHEPEGQSFS IQVHNDPQCG SSPYTCSRAV SLFFVGEQEI HLAKEVTHGG MRVQLPHVMG 

       250        260        270        280        290        300 
SARLQQLAGY VIVRHQSAFT LAWDGASAVY IKMSPELLGW THGLCGNNNA DPKDDLVTSS 

       310        320        330        340        350        360 
GKLTDDVVEF VHSWQEQAPN QPPGPTTSSL PRPPCLQQNP GTMQGVYEQC EALLRPPFDA 

       370        380        390        400        410        420 
CHAYVSPLPF TASCTSDLCQ SMGDVATWCR ALAEYARACA QAGRPLQGWR TQLRQCTVHC 

       430        440        450        460        470        480 
KEKAFTYNEC IACCPASCHP RASCVDSEIA CVDGCYCPNG LIFEDGGCVA PAECPCEFHG 

       490        500        510        520        530        540 
TLYPPGSVVK EDCNTCTCTS GKWECSTAVC PAECSVTGDI HFTTFDGRRY TFPATCQYIL 

       550        560        570        580        590        600 
AKSRSSGTFT VTLQNAPCGL NQDGACVQSV SVILHQDPRR QVTLTQAGDV LLFDQYKIIP 

       610        620        630        640        650        660 
PYTDDAFEIR RLSSVFLRVR TNVGVRVLYD REGLRLYLQV DQRWVEDTVG LCGTFNGNTQ 

       670        680        690        700        710        720 
DDFLSPVGVP ESTPQLFGNS WKTLSACSPL VSGSPLDPCD VHLQAASYSV QACSVLTGEM 

       730        740        750        760        770        780 
FAPCSAFLSP VPYFEQCRRD ACRCGQPCLC ATLAHYAHLC RRHGLPVDFR ARLPACALSC 

       790        800        810        820        830        840 
EASKEYSPCV APCGRTCQDL ASPEACGVDG GDDLSRDECV EGCACPPDTY LDTQADLCVP 

       850        860        870        880        890        900 
RNQCSCHFQG VDYPPGDSDI PSLGHCHCKD GVMSCDSRAP AAACPAGQVF VNCSDLHTDL 

       910        920        930        940        950        960 
ELSRERTCEQ QLLNLSVSAR GPCLSGCACP QGLLRHGDAC FLPEECPCTW KGKEYFPGDQ 

       970        980        990       1000       1010       1020 
VMSPCHTCVC QRGSFQCTLH PCASTCTAYG DRHYRTFDGL PFDFVGACKV HLVKSTSDVS 

      1030       1040       1050       1060       1070       1080 
FSVIVENVNC YSSGMICRKF ISINVGNSLI VFDDDSGNPS PESFLDDKQE VHTWRVGFFT 

      1090       1100       1110       1120       1130       1140 
LVHFPQEHIT LLWDQRTTVH VQAGPQWQGQ LAGLCGNFDL KTINEMRTPE NLELTNPQEF 

      1150       1160       1170       1180       1190       1200 
GSSWAAVECP DTLDPRDMCV LNPLREPFAK KECSILLSEV FEICHPVVDV TWFYSNCLTD 

      1210       1220       1230       1240       1250       1260 
TCGCSQGGDC ECFCASVSAY AHQCCQHGVA VDWRTPRLCP YDCDFFNKVL GKGPYQLSSL 

      1270       1280       1290       1300       1310       1320 
AAGGALVGMK AVGDDIVLVR TEDVAPADIV SFLLTAALYK AKAHDPDVVS LEAADRPNFF 

      1330       1340       1350       1360       1370       1380 
LHVTANGSLE LAKWQGRDTF QQHASFLLHR GTRQAGLVAL ESLAKPSSFL YVSGAVLALR 

      1390       1400       1410       1420       1430       1440 
LYEHTEVFRR GTLFRLLDAK PSGAAYPICE WRYDACASPC FQTCRDPRAA SCRDVPRVEG 

      1450       1460       1470       1480       1490       1500 
CVPVCPTPQV LDEVTQRCVY LEDCVEPAVW VPTEALGNET LPPSQGLPTP SDEEPQLSQE 

      1510       1520       1530       1540       1550       1560 
SPRTPTHRPA LTPAAPLTTA LNPPVTATEE PVVSPGPTQT TLQQPLELTA SQLPAGPTES 

      1570       1580       1590       1600       1610       1620 
PASKGVTASL LAIPHTPESS SLPVALQTPT PGMVSGAMET TRVTVIFAGS PNITVSSRSP 

      1630       1640       1650       1660       1670       1680 
PAPRFPLMTK AVTVRGHGSL PVRTTPPQPS LTASPSSRPV ASPGAISRSP TSSGSHKAVL 

      1690       1700       1710       1720       1730       1740 
TPAVTKVISR TGVPQPTQAQ SASSPSTPLT VAGTAAEQVP VSPLATRSLE IVLSTEKGEA 

      1750       1760       1770       1780       1790       1800 
GHSQPMGSPA SPQPHPLPSA PPRPAQHTTM ATRSPALPPE TPAAASLSTA TDGLAATPFM 

      1810       1820       1830       1840       1850       1860 
SLESTRPSQL LSGLPPDTSL PLAKVGTSAP VATPGPKASV ITTPLQPQAT TLPAQTLSPV 

      1870       1880       1890       1900       1910       1920 
LPFTPAAMTQ AHPPTHIAPP AAGTAPGLLL GATLPTSGVL PVAEGTASMV SVVPRKSTTG 

      1930       1940       1950       1960       1970       1980 
KVAILSKQVS LPTSMYGSAE GGPTELTPAT SHPLTPLVAE PEGAQAGTAL PVPTSYALSR 

      1990       2000       2010       2020       2030       2040 
VSARTAPQDS MLVLLPQLAE AHGTSAGPHL AAEPVDEATT EPSGRSAPAL SIVEGLAEAL 

      2050       2060       2070       2080       2090       2100 
ATTTEANTST TCVPIAEQDC VRHICLEGQL IRVNQSQHCP QGAAPPRCGI LGLAVRVGGD 

      2110       2120       2130       2140       2150       2160 
RCCPLWECAC RCSIFPDLSF VTFDGSHVAL FKEAIYILSQ SPDEMLTVHV LDCKSANLGH 

      2170       2180       2190       2200       2210       2220 
LNWPPFCLVM LNMTHLAHQV TIDRFNRKVT VDLQPVWPPV SRYGFRIEDT GHMYMILTPS 

      2230       2240       2250       2260       2270       2280 
DIQIQWLHSS GLMIVEASKT SKAQGHGLCG ICDGDAANDL TLKDGSVVGG AEDPAPFLDS 

      2290       2300       2310       2320       2330       2340 
WQVPSSLTSV GQTRFRPDSC ATTDCSPCLR MVSNRTFSAC HRFVPPESFC ELWIRDTKYV 

      2350       2360       2370       2380       2390       2400 
QQPCVALTVY VAMCHKFHVC IEWRRSDYCP FLCSSDSTYQ ACVTACEPPK TCQDGILGPL 

      2410       2420       2430       2440       2450       2460 
DPEHCQVLGE GCVCSEGTIL HRRHSALCIP EAKCACTDSM GVPRALGETW NSSLSGCCQH 

      2470       2480       2490       2500       2510       2520 
QCQAPDTIVP VDLGCPSPRP ESCLRFGEVA LLLPTKDPCC LGTVCVCNQT LCEGLAPTCR 

      2530       2540       2550       2560       2570       2580 
PGHRLLTHFQ EDSCCPSYSC ECDPDLCEAE LVPSCRQDQI LITGRLGDSC CTSYFCACGD 

      2590       2600       2610       2620       2630       2640 
CPDSIPECQE GEALTVHRNT TELCCPLYQC VCENFRCPQV QCGLGTALVE VWSPDRCCPY 

      2650       2660       2670       2680       2690       2700 
KSCECDCDTI PVPRCHLWEK SQLDEEFMHS VENVCGCAKY ECVKAPVCLS RELGVMQPGQ 

      2710       2720       2730       2740       2750       2760 
TVVELSADGV CHTSRCTTVL DPLTNFYQIN TTSVLCDIHC EANQEYEHPR DLAACCGSCR 

      2770       2780       2790       2800       2810       2820 
NVSCLFTFPN GTTSLFLPGA SWIADCARHH CSSTPLGAVL VRSPISCPPL NETECAKVGG 

      2830       2840       2850       2860       2870       2880 
SVVPSLEGCC RTCKEDGRSC KKVTIRMTIR KNECRSSTPV NLVSCDGRCP SASIYNYNIN 

      2890       2900       2910       2920 
TYARFCKCCR EVGLQRRSVQ LFCATNATWV PYTVQEPTDC ACQWS 

« Hide

Isoform 2 [UniParc].

Checksum: CEFB9E9A41CE0FF2
Show »

FASTA1,508160,321

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 2).
Tissue: Testis.
[2]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment."
Schraders M., Ruiz-Palmero L., Kalay E., Oostrik J., del Castillo F.J., Sezgin O., Beynon A.J., Strom T.M., Pennings R.J., Seco C.Z., Oonk A.M., Kunst H.P., Dominguez-Ruiz M., Garcia-Arumi A.M., del Campo M., Villamar M., Hoefsloot L.H., Moreno F. expand/collapse author list , Admiraal R.J., del Castillo I., Kremer H.
Am. J. Hum. Genet. 91:883-889(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT DFNB18B LEU-2116.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK128214 mRNA. Translation: BAC87330.1.
AC124799 Genomic DNA. No translation available.
RefSeqNP_001264198.1. NM_001277269.1.
UniGeneHs.688380.

3D structure databases

ProteinModelPortalQ6ZRI0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid131110. 1 interaction.
STRING9606.ENSP00000382323.

PTM databases

PhosphoSiteQ6ZRI0.

Polymorphism databases

DMDM215274227.

Proteomic databases

PaxDbQ6ZRI0.
PRIDEQ6ZRI0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000342528; ENSP00000341666; ENSG00000188162. [Q6ZRI0-2]
ENST00000399391; ENSP00000382323; ENSG00000188162. [Q6ZRI0-1]
GeneID340990.
KEGGhsa:340990.
UCSCuc001mnh.1. human. [Q6ZRI0-2]
uc031pzc.1. human. [Q6ZRI0-1]

Organism-specific databases

CTD340990.
GeneCardsGC11P017530.
HGNCHGNC:8516. OTOG.
MIM604487. gene.
614945. phenotype.
neXtProtNX_Q6ZRI0.
Orphanet90636. Autosomal recessive nonsyndromic sensorineural deafness type DFNB.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG12793.
HOVERGENHBG108222.
InParanoidQ6ZRI0.
OMAPYFEQCR.
PhylomeDBQ6ZRI0.
TreeFamTF300299.

Gene expression databases

BgeeQ6ZRI0.
CleanExHS_OTOG.
GenevestigatorQ6ZRI0.

Family and domain databases

InterProIPR007934. AbfB.
IPR006207. Cys_knot_C.
IPR000742. EG-like_dom.
IPR002919. TIL_dom.
IPR014853. Unchr_dom_Cys-rich.
IPR001007. VWF_C.
IPR001846. VWF_type-D.
[Graphical view]
PfamPF05270. AbfB. 1 hit.
PF08742. C8. 4 hits.
PF01826. TIL. 1 hit.
PF00094. VWD. 4 hits.
[Graphical view]
SMARTSM00832. C8. 4 hits.
SM00041. CT. 1 hit.
SM00214. VWC. 2 hits.
SM00216. VWD. 4 hits.
[Graphical view]
SUPFAMSSF110221. SSF110221. 1 hit.
SSF57567. SSF57567. 4 hits.
PROSITEPS01225. CTCK_2. 1 hit.
PS50026. EGF_3. 1 hit.
PS51233. VWFD. 4 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi340990.
NextBio98054.
PROQ6ZRI0.
SOURCESearch...

Entry information

Entry nameOTOG_HUMAN
AccessionPrimary (citable) accession number: Q6ZRI0
Secondary accession number(s): A8MTX6, A8MUJ0, B7WPC4
Entry history
Integrated into UniProtKB/Swiss-Prot: December 4, 2007
Last sequence update: November 25, 2008
Last modified: April 16, 2014
This is version 85 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 11

Human chromosome 11: entries, gene names and cross-references to MIM