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Q9Y2G2 (CARD8_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 126. 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·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Caspase recruitment domain-containing protein 8
Alternative name(s):
Apoptotic protein NDPP1
CARD-inhibitor of NF-kappa-B-activating ligand
Short name=CARDINAL
DACAR
Tumor up-regulated CARD-containing antagonist of CASP9
Short name=TUCAN
Gene names
Name:CARD8
Synonyms:KIAA0955, NDPP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length431 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Inhibits NF-kappa-B activation. May participate in a regulatory mechanism that coordinates cellular responses controlled by NF-kappa-B transcription factor. May be a component of the inflammasome, a protein complex which also includes PYCARD, NALP2 and CASP1 and whose function would be the activation of proinflammatory caspases.

Subunit structure

May form homodimers. Interacts with NEMO and DRAL. Binds to caspase-1, CARD16/pseudo-ICE and CARD18/ICEBERG. Interacts with FNBP3 By similarity. Interacts with NALP2 NACHT domain. Ref.2 Ref.14

Subcellular location

Cytoplasm. Nucleus Ref.14.

Tissue specificity

High expression in lung, ovary, testis and placenta. Lower expression in heart, kidney and liver. Also expressed in spleen, lymph node and bone marrow.

Sequence similarities

Contains 1 CARD domain.

Sequence caution

The sequence BAA76799.2 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y2G2-1)

Also known as: Long;

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: Q9Y2G2-2)

Also known as: Short;

The sequence of this isoform differs from the canonical sequence as follows:
     282-286: ELKLS → WISSL
     287-431: Missing.
Isoform 3 (identifier: Q9Y2G2-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: MMRQRQSHYCSVLFLSVNYLGGTFP → MEKKECPEKS...EQESSEGQDS
     152-152: Q → QA
     282-286: ELKLS → WISSL
     287-431: Missing.
Isoform 4 (identifier: Q9Y2G2-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: MMRQRQSHYCSVLFLSVNYLGGTFP → MEKKECPEKS...EQESSEGQDS
     152-152: Q → QA
Note: No experimental confirmation available.
Isoform 5 (identifier: Q9Y2G2-5)

Also known as: T60;

The sequence of this isoform differs from the canonical sequence as follows:
     1-25: MMRQRQSHYCSVLFLSVNYLGGTFP → MEKKECPEKS...EQESSEGQDS
     152-152: Q → QA

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 431431Caspase recruitment domain-containing protein 8
PRO_0000144080

Regions

Domain340 – 43091CARD

Natural variations

Alternative sequence1 – 2525MMRQR…GGTFP → MEKKECPEKSSSSEEELPRR DSGSSRNIDASKLIRLQGSR KLLVDNSIRELQYTKTGIFF QAEACVTNDTVYRELPCVSE TLCDISHFFQEDDETEAEPL LFRAVPECQLSGGDIPSVSE EQESSEGQDS in isoform 3 and isoform 5.
VSP_012770
Alternative sequence1 – 2525MMRQR…GGTFP → MEKKECPEKSSSSEEELPRR VYRELPCVSETLCDISHFFQ EDDETEAEPLLFRAVPECQL SGGDIPSVSEEQESSEGQDS in isoform 4.
VSP_045253
Alternative sequence1521Q → QA in isoform 3, isoform 4 and isoform 5.
VSP_012771
Alternative sequence282 – 2865ELKLS → WISSL in isoform 2 and isoform 3.
VSP_000782
Alternative sequence287 – 431145Missing in isoform 2 and isoform 3.
VSP_000783
Natural variant681I → V. Ref.8
Corresponds to variant rs11881179 [ dbSNP | Ensembl ].
VAR_048606
Natural variant991E → A. Ref.8
Corresponds to variant rs59878320 [ dbSNP | Ensembl ].
VAR_061079

Experimental info

Mutagenesis3661L → R: Inhibits homodimer formation. Ref.13
Sequence conflict601E → G in AAL02427. Ref.5
Sequence conflict1481F → S in AAH56891. Ref.11
Sequence conflict2191P → R in BAH12488. Ref.8
Sequence conflict3261V → M in AAL02427. Ref.5
Sequence conflict4171E → G in ABW96891. Ref.6
Sequence conflict4221L → P in AAL02427. Ref.5
Isoform 5:
Sequence conflict841D → G in ABW96891. Ref.6
Sequence conflict1071E → D in ABW96891. Ref.6

Secondary structure

.............. 431
Helix Strand Turn

Details...

Sequences

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

Last modified November 1, 1999. Version 1.
Checksum: CB54D130807732E6

FASTA43148,933
        10         20         30         40         50         60 
MMRQRQSHYC SVLFLSVNYL GGTFPGDICS EENQIVSSYA SKVCFEIEED YKNRQFLGPE 

        70         80         90        100        110        120 
GNVDVELIDK STNRYSVWFP TAGWYLWSAT GLGFLVRDEV TVTIAFGSWS QHLALDLQHH 

       130        140        150        160        170        180 
EQWLVGGPLF DVTAEPEEAV AEIHLPHFIS LQGEVDVSWF LVAHFKNEGM VLEHPARVEP 

       190        200        210        220        230        240 
FYAVLESPSF SLMGILLRIA SGTRLSIPIT SNTLIYYHPH PEDIKFHLYL VPSDALLTKA 

       250        260        270        280        290        300 
IDDEEDRFHG VRLQTSPPME PLNFGSSYIV SNSANLKVMP KELKLSYRSP GEIQHFSKFY 

       310        320        330        340        350        360 
AGQMKEPIQL EITEKRHGTL VWDTEVKPVD LQLVAASAPP PFSGAAFVKE NHRQLQARMG 

       370        380        390        400        410        420 
DLKGVLDDLQ DNEVLTENEK ELVEQEKTRQ SKNEALLSMV EKKGDLALDV LFRSISERDP 

       430 
YLVSYLRQQN L 

« Hide

Isoform 2 (Short) [UniParc].

Checksum: E6344DB98904F814
Show »

FASTA28632,369
Isoform 3 [UniParc].

Checksum: 69F2C3DF325C3043
Show »

FASTA39244,088
Isoform 4 [UniParc].

Checksum: BE398DFC6F431003
Show »

FASTA48755,109
Isoform 5 (T60) [UniParc].

Checksum: 55775D025C5461BE
Show »

FASTA53760,652

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"CARD-8 protein, a new CARD family member that regulates caspase-1 activation and apoptosis."
Razmara M., Srinivasula S.M., Wang L., Poyet J.-L., Geddes B.J., DiStefano P.S., Bertin J., Alnemri E.S.
J. Biol. Chem. 277:13952-13958(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH CARD16 AND CARD18.
[3]"NDPP1 is a novel CARD domain containing protein which can inhibit apoptosis and suppress NF-kappaB activation."
Zhang H., Fu W.
Int. J. Oncol. 20:1035-1040(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]"DACAR, a novel CARD-containing protein."
Guiet C., Vito P.
Submitted (JAN-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[5]"CARDINAL, a novel caspase recruitment domain protein, is an inhibitor of multiple NF-kappa B activation pathways."
Bouchier-Hayes L., Conroy H., Egan H., Adrain C., Creagh E.M., MacFarlane M., Martin S.J.
J. Biol. Chem. 276:44069-44077(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[6]"Novel isoforms of the CARD8 (TUCAN) gene evade a nonsense mutation."
Bagnall R.D., Roberts R.G., Mirza M.M., Torigoe T., Prescott N.J., Mathew C.G.
Eur. J. Hum. Genet. 16:619-625(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), ALTERNATIVE SPLICING.
[7]Guo J.H., Yu L.
Submitted (MAY-2002) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Kidney.
[8]"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 3 AND 4), VARIANTS VAL-68 AND ALA-99.
Tissue: Umbilical cord blood.
[9]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]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].
[11]"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 3).
Tissue: Eye.
[12]"TUCAN, an antiapoptotic caspase-associated recruitment domain family protein overexpressed in cancer."
Pathan N., Marusawa H., Krajewska M., Matsuzawa S., Kim H., Okada K., Torii S., Kitada S., Krajewski S., Welsh K., Pio F., Godzik A., Reed J.C.
J. Biol. Chem. 276:32220-32229(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION.
[13]"TUCAN/CARDINAL and DRAL participate in a common pathway for modulation of NF-kappaB activation."
Stilo R., Leonardi A., Formisano L., Di Jeso B., Vito P., Liguoro D.
FEBS Lett. 521:165-169(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION, MUTAGENESIS OF LEU-366.
[14]"NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder."
Agostini L., Martinon F., Burns K., McDermott M.F., Hawkins P.N., Tschopp J.
Immunity 20:319-325(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH NALP2, SUBCELLULAR LOCATION.
[15]"The structure of the CARD8 caspase-recruitment domain suggests its association with the FIIND domain and procaspases through adjacent surfaces."
Jin T., Huang M., Smith P., Jiang J., Xiao T.S.
Acta Crystallogr. F 69:482-487(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: X-RAY CRYSTALLOGRAPHY (2.46 ANGSTROMS) OF 345-431.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB023172 mRNA. Translation: BAA76799.2. Different initiation.
AF322184 mRNA. Translation: AAG50014.1.
AF331519 mRNA. Translation: AAK01126.1.
AY026322 mRNA. Translation: AAK08982.1.
AF405558 mRNA. Translation: AAL02427.1.
EU118120 mRNA. Translation: ABW96891.1.
AF511652 mRNA. Translation: AAM46959.1.
AK297045 mRNA. Translation: BAH12482.1.
AK297069 mRNA. Translation: BAH12488.1.
AC008392 Genomic DNA. No translation available.
AC011466 Genomic DNA. No translation available.
CH471177 Genomic DNA. Translation: EAW52321.1.
CH471177 Genomic DNA. Translation: EAW52323.1.
BC056891 mRNA. Translation: AAH56891.1.
CCDSCCDS12712.2. [Q9Y2G2-4]
CCDS54288.1. [Q9Y2G2-3]
CCDS54289.1. [Q9Y2G2-5]
RefSeqNP_001171829.1. NM_001184900.1. [Q9Y2G2-5]
NP_001171830.1. NM_001184901.1. [Q9Y2G2-4]
NP_001171831.1. NM_001184902.1. [Q9Y2G2-3]
NP_001171832.1. NM_001184903.1. [Q9Y2G2-3]
NP_055774.2. NM_014959.3. [Q9Y2G2-4]
XP_006723154.1. XM_006723091.1. [Q9Y2G2-5]
XP_006723155.1. XM_006723092.1. [Q9Y2G2-5]
XP_006723156.1. XM_006723093.1. [Q9Y2G2-5]
XP_006723158.1. XM_006723095.1. [Q9Y2G2-4]
XP_006723159.1. XM_006723096.1. [Q9Y2G2-4]
XP_006723160.1. XM_006723097.1. [Q9Y2G2-4]
XP_006723167.1. XM_006723104.1. [Q9Y2G2-1]
XP_006723169.1. XM_006723106.1. [Q9Y2G2-3]
XP_006723172.1. XM_006723109.1. [Q9Y2G2-2]
UniGeneHs.446146.
Hs.655940.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4IKMX-ray2.46A345-431[»]
ProteinModelPortalQ9Y2G2.
SMRQ9Y2G2. Positions 308-431.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116564. 4 interactions.
IntActQ9Y2G2. 3 interactions.
MINTMINT-202188.
STRING9606.ENSP00000351901.

Protein family/group databases

MEROPSS79.001.

Polymorphism databases

DMDM14424229.

Proteomic databases

MaxQBQ9Y2G2.
PaxDbQ9Y2G2.
PRIDEQ9Y2G2.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000359009; ENSP00000351901; ENSG00000105483. [Q9Y2G2-1]
ENST00000391898; ENSP00000375767; ENSG00000105483. [Q9Y2G2-5]
ENST00000447740; ENSP00000391248; ENSG00000105483. [Q9Y2G2-4]
ENST00000519940; ENSP00000428883; ENSG00000105483. [Q9Y2G2-5]
ENST00000520015; ENSP00000430747; ENSG00000105483. [Q9Y2G2-3]
ENST00000520153; ENSP00000428736; ENSG00000105483. [Q9Y2G2-4]
ENST00000520753; ENSP00000429839; ENSG00000105483. [Q9Y2G2-3]
ENST00000521613; ENSP00000427858; ENSG00000105483. [Q9Y2G2-4]
GeneID22900.
KEGGhsa:22900.
UCSCuc002pie.4. human. [Q9Y2G2-1]
uc002pif.4. human. [Q9Y2G2-2]
uc002pih.4. human.
uc002pii.4. human. [Q9Y2G2-3]
uc010xzj.2. human.

Organism-specific databases

CTD22900.
GeneCardsGC19M048711.
H-InvDBHIX0020041.
HGNCHGNC:17057. CARD8.
HPAHPA042071.
HPA043513.
MIM609051. gene.
neXtProtNX_Q9Y2G2.
PharmGKBPA134916154.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG146295.
HOVERGENHBG050795.
KOK12801.
OMAHHEQWLV.
PhylomeDBQ9Y2G2.
TreeFamTF352798.

Gene expression databases

ArrayExpressQ9Y2G2.
BgeeQ9Y2G2.
CleanExHS_CARD8.
GenevestigatorQ9Y2G2.

Family and domain databases

Gene3D1.10.533.10. 1 hit.
InterProIPR001315. CARD.
IPR011029. DEATH-like_dom.
IPR025307. FIIND_dom.
[Graphical view]
PfamPF00619. CARD. 1 hit.
PF13553. FIIND. 1 hit.
[Graphical view]
SMARTSM00114. CARD. 1 hit.
[Graphical view]
SUPFAMSSF47986. SSF47986. 1 hit.
PROSITEPS50209. CARD. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCARD8. human.
GeneWikiCARD8.
GenomeRNAi22900.
NextBio43531.
PROQ9Y2G2.
SOURCESearch...

Entry information

Entry nameCARD8_HUMAN
AccessionPrimary (citable) accession number: Q9Y2G2
Secondary accession number(s): B5KVR6 expand/collapse secondary AC list , B7Z496, B7Z4A2, E9PEM7, G3XAM9, Q6PGP8, Q96P82
Entry history
Integrated into UniProtKB/Swiss-Prot: June 20, 2001
Last sequence update: November 1, 1999
Last modified: July 9, 2014
This is version 126 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 19

Human chromosome 19: entries, gene names and cross-references to MIM