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Q15714 (T22D1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 132. 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·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
TSC22 domain family protein 1
Alternative name(s):
Cerebral protein 2
Regulatory protein TSC-22
TGFB-stimulated clone 22 homolog
Transforming growth factor beta-1-induced transcript 4 protein
Gene names
Name:TSC22D1
Synonyms:KIAA1994, TGFB1I4, TSC22
ORF Names:hucep-2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1073 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcriptional repressor. Acts on the C-type natriuretic peptide (CNP) promoter.

Subunit structure

Homodimer or heterodimer. Can form a heterodimer with TSC22D4.

Subcellular location

Cytoplasm By similarity. Nucleus By similarity.

Tissue specificity

Widely expressed in fetal and adult tissues.

Induction

In aortic endothelial cells, induced by cytokines, including TGFB1.

Sequence similarities

Belongs to the TSC-22/Dip/Bun family.

Sequence caution

The sequence BAC02703.1 differs from that shown. Reason: Erroneous initiation.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

TPT1P136935EBI-712609,EBI-1783169

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q15714-1)

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: Q15714-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-921: Missing.
     922-970: VGLPQTISGD...TTPLVDGEDE → MKSQWCRPVA...TENASVRLDN
Isoform 3 (identifier: Q15714-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-488: Missing.
Isoform 4 (identifier: Q15714-4)

The sequence of this isoform differs from the canonical sequence as follows:
     557-570: QQKQGLQPVPLQAT → LTMKVVLLIVYLCM
     571-1073: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 10731073TSC22 domain family protein 1
PRO_0000219365

Regions

Region1006 – 102722Leucine-zipper
Compositional bias59 – 8224Pro-rich
Compositional bias195 – 24147His-rich
Compositional bias497 – 817321Gln-rich

Amino acid modifications

Modified residue2631Phosphoserine Ref.14

Natural variations

Alternative sequence1 – 921921Missing in isoform 2.
VSP_035325
Alternative sequence1 – 488488Missing in isoform 3.
VSP_035324
Alternative sequence557 – 57014QQKQG…PLQAT → LTMKVVLLIVYLCM in isoform 4.
VSP_044939
Alternative sequence571 – 1073503Missing in isoform 4.
VSP_044940
Alternative sequence922 – 97049VGLPQ…DGEDE → MKSQWCRPVAMDLGVYQLRH FSISFLSSLLGTENASVRLD N in isoform 2.
VSP_035326
Natural variant6521P → S.
Corresponds to variant rs9525983 [ dbSNP | Ensembl ].
VAR_057311

Experimental info

Sequence conflict3321M → I in BAC02703. Ref.6
Sequence conflict5811P → L in CAH10539. Ref.12
Sequence conflict6611P → S in CAH10539. Ref.12
Isoform 2:
Sequence conflict151V → A in BAB46917. Ref.4

Sequences

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

Last modified May 31, 2011. Version 3.
Checksum: BFA471E36FCD06BD

FASTA1,073109,677
        10         20         30         40         50         60 
MHQPPESTAA AAAAADISAR KMAHPAMFPR RGSGSGSASA LNAAGTGVGS NATSSEDFPP 

        70         80         90        100        110        120 
PSLLQPPPPA ASSTSGPQPP PPQSLNLLSQ AQLQAQPLAP GGTQMKKKSG FQITSVTPAQ 

       130        140        150        160        170        180 
ISASISSNNS IAEDTESYDD LDESHTEDLS SSEILDVSLS RATDLGEPER SSSEETLNNF 

       190        200        210        220        230        240 
QEAETPGAVS PNQPHLPQPH LPHLPQQNVV INGNAHPHHL HHHHQIHHGH HLQHGHHHPS 

       250        260        270        280        290        300 
HVAVASASIT GGPPSSPVSR KLSTTGSSDS ITPVAPTSAV SSSGSPASVM TNMRAPSTTG 

       310        320        330        340        350        360 
GIGINSVTGT STVNNVNITA VGSFNPNVTS SMLGNVNIST SNIPSAAGVS VGPGVTSGVN 

       370        380        390        400        410        420 
VNILSGMGNG TISSSAAVSS VPNAAAGMTG GSVSSQQQQP TVNTSRFRVV KLDSSSEPFK 

       430        440        450        460        470        480 
KGRWTCTEFY EKENAVPATE GVLINKVVET VKQNPIEVTS ERESTSGSSV SSSVSTLSHY 

       490        500        510        520        530        540 
TESVGSGEMG APTVVVQQQQ QQQQQQQQQP ALQGVTLQQM DFGSTGPQSI PAVSIPQSIS 

       550        560        570        580        590        600 
QSQISQVQLQ SQELSYQQKQ GLQPVPLQAT MSAATGIQPS PVNVVGVTSA LGQQPSISSL 

       610        620        630        640        650        660 
AQPQLPYSQA APPVQTPLPG APPPQQLQYG QQQPMVSTQM APGHVKSVTQ NPASEYVQQQ 

       670        680        690        700        710        720 
PILQTAMSSG QPSSAGVGAG TTVIPVAQPQ GIQLPVQPTA VPAQPAGASV QPVGQAPAAV 

       730        740        750        760        770        780 
SAVPTGSQIA NIGQQANIPT AVQQPSTQVP PSVIQQGAPP SSQVVPPAQT GIIHQGVQTS 

       790        800        810        820        830        840 
APSLPQQLVI ASQSSLLTVP PQPQGVEPVA QGIVSQQLPA VSSLPSASSI SVTSQVSSTG 

       850        860        870        880        890        900 
PSGMPSAPTN LVPPQNIAQT PATQNGNLVQ SVSQPPLIAT NTNLPLAQQI PLSSTQFSAQ 

       910        920        930        940        950        960 
SLAQAIGSQI EDARRAAEPS LVGLPQTISG DSGGMSAVSD GSSSSLAASA SLFPLKVLPL 

       970        980        990       1000       1010       1020 
TTPLVDGEDE SSSGASVVAI DNKIEQAMDL VKSHLMYAVR EEVEVLKEQI KELIEKNSQL 

      1030       1040       1050       1060       1070 
EQENNLLKTL ASPEQLAQFQ AQLQTGSPPA TTQPQGTTQP PAQPASQGSG PTA 

« Hide

Isoform 2 [UniParc].

Checksum: B8AEF42657C50892
Show »

FASTA14415,680
Isoform 3 [UniParc].

Checksum: B2DDBF5D12954ABE
Show »

FASTA58559,863
Isoform 4 [UniParc].

Checksum: B6A604F32A6CB638
Show »

FASTA57058,859

References

« Hide 'large scale' references
[1]"Cloning of the human homologue of the TGF beta-stimulated clone 22 gene."
Jay P., Wei J.W., Marsollier C., Taviaux S., Berge-Lefranc J.-L., Berta P.
Biochem. Biophys. Res. Commun. 222:821-826(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]"Molecular cloning and characterization of a transcription factor for the C-type natriuretic peptide gene promoter."
Ohta S., Shimekake Y., Nagata K.
Eur. J. Biochem. 242:460-466(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Kidney.
[3]"The characteristics of different types of mRNA expressed in the human brain."
Dmitrenko V.V., Garifulin O.M., Shostak E.A., Smikodub A.I., Kavsan V.M.
Cyt. Genet. 30:41-47(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Brain.
[4]"Hucep-2, a gene which is expressed in the human brain, is a homologue of rodent and chicken TSC-22."
Yazaki M., Takayama K., Matsumoto K., Yoshimoto M.
Submitted (AUG-1996) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Brain cortex.
[5]"Cloning and characterization of human TSC-22 genomic DNA."
Kawamata H., Uchida D., Omotehara F., Hino S., Nakashiro K., Miwa Y., Begum N., Hoque M.O., Yoshida H., Sato M.
Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[6]"Characterization of size-fractionated cDNA libraries generated by the in vitro recombination-assisted method."
Ohara O., Nagase T., Mitsui G., Kohga H., Kikuno R., Hiraoka S., Takahashi Y., Kitajima S., Saga Y., Koseki H.
DNA Res. 9:47-57(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[7]"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 2 AND 4).
Tissue: Brain cortex and Lung.
[8]"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 2).
[9]"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: Fetal brain.
[10]"The DNA sequence and analysis of human chromosome 13."
Dunham A., Matthews L.H., Burton J., Ashurst J.L., Howe K.L., Ashcroft K.J., Beare D.M., Burford D.C., Hunt S.E., Griffiths-Jones S., Jones M.C., Keenan S.J., Oliver K., Scott C.E., Ainscough R., Almeida J.P., Ambrose K.D., Andrews D.T. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Bannerjee R., Barlow K.F., Bates K., Beasley H., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burrill W., Carder C., Carter N.P., Chapman J.C., Clamp M.E., Clark S.Y., Clarke G., Clee C.M., Clegg S.C., Cobley V., Collins J.E., Corby N., Coville G.J., Deloukas P., Dhami P., Dunham I., Dunn M., Earthrowl M.E., Ellington A.G., Faulkner L., Frankish A.G., Frankland J., French L., Garner P., Garnett J., Gilbert J.G.R., Gilson C.J., Ghori J., Grafham D.V., Gribble S.M., Griffiths C., Hall R.E., Hammond S., Harley J.L., Hart E.A., Heath P.D., Howden P.J., Huckle E.J., Hunt P.J., Hunt A.R., Johnson C., Johnson D., Kay M., Kimberley A.M., King A., Laird G.K., Langford C.J., Lawlor S., Leongamornlert D.A., Lloyd D.M., Lloyd C., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., McLaren S.J., McMurray A., Milne S., Moore M.J.F., Nickerson T., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K.M., Rice C.M., Searle S., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Steward C.A., Sycamore N., Tester J., Thomas D.W., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Wilming L., Wray P.W., Wright M.W., Young L., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Beck S., Bentley D.R., Rogers J., Ross M.T.
Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[12]"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).
Tissue: Brain, Colon, Lung, Ovary and Testis.
[13]"Transforming growth factor-beta-stimulated clone-22 is a member of a family of leucine zipper proteins that can homo- and heterodimerize and has transcriptional repressor activity."
Kester H.A., Blanchetot C., den Hertog J., van der Saag P.T., van der Burg B.
J. Biol. Chem. 274:27439-27447(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION.
[14]"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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-263, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[15]"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].
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U35048 mRNA. Translation: AAC50566.1.
D38585 mRNA. Translation: BAA07598.1.
AJ222700 mRNA. Translation: CAA10951.1.
D87061 mRNA. Translation: BAB46917.1.
AF256226 Genomic DNA. Translation: AAG53077.1.
AB082525 mRNA. Translation: BAC02703.1. Different initiation.
AK091854 mRNA. Translation: BAG52429.1.
AK312345 mRNA. Translation: BAG35266.1.
CR456711 mRNA. Translation: CAG32992.1.
CR627459 mRNA. Translation: CAH10539.1.
AL138960, AL139184 Genomic DNA. Translation: CAI12991.1.
AL139184, AL138960 Genomic DNA. Translation: CAI16499.1.
AL356107 Genomic DNA. No translation available.
CH471075 Genomic DNA. Translation: EAX08710.1.
BC000456 mRNA. Translation: AAH00456.1.
BC016867 mRNA. Translation: AAH16867.1.
BC069207 mRNA. Translation: AAH69207.1.
BC105277 mRNA. Translation: AAI05278.1.
BC136475 mRNA. Translation: AAI36476.1.
BC136482 mRNA. Translation: AAI36483.1.
BC146664 mRNA. Translation: AAI46665.1.
BC146679 mRNA. Translation: AAI46680.1.
CCDSCCDS31966.1. [Q15714-1]
CCDS58291.1. [Q15714-4]
CCDS9392.1. [Q15714-2]
PIRJC4813.
RefSeqNP_001230728.1. NM_001243799.1. [Q15714-4]
NP_006013.1. NM_006022.3. [Q15714-2]
NP_904358.2. NM_183422.3. [Q15714-1]
XP_006719950.1. XM_006719887.1. [Q15714-1]
UniGeneHs.436383.

3D structure databases

ProteinModelPortalQ15714.
SMRQ15714. Positions 988-1043.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid114374. 85 interactions.
IntActQ15714. 47 interactions.
MINTMINT-1367987.
STRING9606.ENSP00000397435.

PTM databases

PhosphoSiteQ15714.

Polymorphism databases

DMDM334302874.

Proteomic databases

MaxQBQ15714.
PaxDbQ15714.
PRIDEQ15714.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261489; ENSP00000261489; ENSG00000102804. [Q15714-2]
ENST00000458659; ENSP00000397435; ENSG00000102804. [Q15714-1]
ENST00000501704; ENSP00000437414; ENSG00000102804. [Q15714-4]
GeneID8848.
KEGGhsa:8848.
UCSCuc001uzm.4. human. [Q15714-2]
uc001uzn.4. human. [Q15714-1]
uc001uzo.2. human.

Organism-specific databases

CTD8848.
GeneCardsGC13M045007.
H-InvDBHIX0037340.
HGNCHGNC:16826. TSC22D1.
MIM607715. gene.
neXtProtNX_Q15714.
PharmGKBPA134887618.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG261231.
HOVERGENHBG108540.
InParanoidQ15714.
OMAARKMAHP.
OrthoDBEOG7RZ5PT.
PhylomeDBQ15714.
TreeFamTF318837.

Gene expression databases

ArrayExpressQ15714.
BgeeQ15714.
CleanExHS_TSC22D1.
GenevestigatorQ15714.

Family and domain databases

InterProIPR000580. TSC-22_Dip_Bun.
[Graphical view]
PANTHERPTHR12348. PTHR12348. 1 hit.
PfamPF01166. TSC22. 1 hit.
[Graphical view]
ProDomPD007152. TSC-22_Dip_Bun. 1 hit.
[Graphical view] [Entries sharing at least one domain]
PROSITEPS01289. TSC22. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSTSC22D1. human.
GeneWikiTSC22D1.
GenomeRNAi8848.
NextBio33215.
PROQ15714.
SOURCESearch...

Entry information

Entry nameT22D1_HUMAN
AccessionPrimary (citable) accession number: Q15714
Secondary accession number(s): B3KRL7 expand/collapse secondary AC list , B9EGI0, O00666, Q6AHX5, Q6IBU1, Q8NCN1, Q96JS5
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: May 31, 2011
Last modified: July 9, 2014
This is version 132 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 13

Human chromosome 13: entries, gene names and cross-references to MIM