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P0CAP1 (MYZAP_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 50. 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:
Myocardial zonula adherens protein
Alternative name(s):
GRINL1A upstream protein
Short name=Gup
Gene names
Name:MYZAP
Synonyms:MYOZAP
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length466 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 cellular signaling via Rho-related GTP-binding proteins and subsequent activation of transcription factor SRF By similarity. Targets TJP1 to cell junctions. In cortical neurons, may play a role in glutaminergic signal transduction through interaction with the NMDA receptor subunit GRIN1 By similarity.

Subunit structure

Interacts with DSP, MPRIP and TJP1/ZO1. Interaction with MPRIP inhibits the activation of transcription factor SRF By similarity. Interacts with GRIN1. Interacts with DYNLL1. Ref.7 Ref.9 Ref.10

Subcellular location

Cytoplasmcytoskeleton By similarity. Cell membrane; Peripheral membrane protein; Cytoplasmic side By similarity. CytoplasmmyofibrilsarcomereI band By similarity. CytoplasmmyofibrilsarcomereZ line By similarity. Cell junction. Note: Detected predominantly at the intercalated disk in cardiomyocytes, and at low levels on sarcomeric Z disks. Colocalizes with F-actin. Colocalizes with cortical actin By similarity. Ref.7 Ref.10

Tissue specificity

Detected in heart, liver, skeletal muscle, placenta, small intestine, lung, prostate and testis. Ref.1 Ref.2

Miscellaneous

The adjacent MYZAP and POLR2M genes are part of a complex transcription unit. The respective transcripts derive from different promoters and are alternatively spliced. In human, some transcripts of the upstream promoter of MYZAP use exons of the downstream POLR2M gene.

Sequence similarities

Belongs to the MYZAP family.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

DYNLL1P631676EBI-7929343,EBI-349105

Alternative products

This entry describes 11 isoforms produced by alternative splicing. [Align] [Select]

Note: Additional isoforms seem to exist.
Isoform 1 (identifier: P0CAP1-1)

Also known as: Gcom8; Gup1;

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: P0CAP1-2)

Also known as: Gcom2;

The sequence of this isoform differs from the canonical sequence as follows:
     435-466: SQTGRTREIVMPSRNYTPYTRVLELTMKKTLT → RRCKQSSQRKN
Isoform 3 (identifier: P0CAP1-3)

Also known as: Gcom13;

The sequence of this isoform differs from the canonical sequence as follows:
     108-138: Missing.
Isoform 4 (identifier: P0CAP1-4)

Also known as: Gcom9; Gup2;

The sequence of this isoform differs from the canonical sequence as follows:
     374-401: Missing.
Isoform 5 (identifier: P0CAP1-5)

Also known as: Gcom10;

The sequence of this isoform differs from the canonical sequence as follows:
     375-466: ESLKKKLQQK...LELTMKKTLT → MSHELFSRFSLRLFGR
Isoform 6 (identifier: P0CAP1-6)

Also known as: Gcom3;

The sequence of this isoform differs from the canonical sequence as follows:
     402-466: NNELQSRLDY...LELTMKKTLT → GRKGLKGRLKMSC
Isoform 7 (identifier: P0CAP1-7)

Also known as: Gcom4;

The sequence of this isoform differs from the canonical sequence as follows:
     402-466: NNELQSRLDYLTETQAKTEVETREIGVGCDLLPSQTGRTREIVMPSRNYTPYTRVLELTMKKTLT → VTFSTK
Isoform 8 (identifier: P0CAP1-8)

Also known as: Gcom5;

The sequence of this isoform differs from the canonical sequence as follows:
     374-466: IESLKKKLQQ...LELTMKKTLT → VTFSTK
Isoform 9 (identifier: P0CAP1-9)

Also known as: Gcom6;

The sequence of this isoform differs from the canonical sequence as follows:
     108-138: Missing.
     374-401: Missing.
     435-466: SQTGRTREIVMPSRNYTPYTRVLELTMKKTLT → RQSRKFEKVLNEFVQLLPLPHHLLWAFGNVCWRRHFGLLQ
Isoform 10 (identifier: P0CAP1-10)

Also known as: Gcom11;

The sequence of this isoform differs from the canonical sequence as follows:
     107-175: Missing.
Isoform 11 (identifier: P0CAP1-11)

Also known as: Gcom1; GRINL1A complex locus protein 1;

The sequence of this isoform differs from the canonical sequence as follows:
     435-466: SQTGRTREIVMPSRNYTPYTRVLELTMKKTLT → RLPFRQNDSS...EDDDWSSDEF
Note: Based on a naturally occurring readthrough transcript which produces a MYZAP-POLR2M fusion protein.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 466446Myocardial zonula adherens protein
PRO_0000376013

Regions

Coiled coil96 – 14247 Potential
Coiled coil174 – 418245 Potential
Motif424 – 4252Required for DYNLL1-binding

Natural variations

Alternative sequence107 – 17569Missing in isoform 10.
VSP_037389
Alternative sequence108 – 13831Missing in isoform 9 and isoform 3.
VSP_037390
Alternative sequence374 – 46693IESLK…KKTLT → VTFSTK in isoform 8.
VSP_037391
Alternative sequence374 – 40128Missing in isoform 4 and isoform 9.
VSP_037392
Alternative sequence375 – 46692ESLKK…KKTLT → MSHELFSRFSLRLFGR in isoform 5.
VSP_037393
Alternative sequence402 – 46665NNELQ…KKTLT → GRKGLKGRLKMSC in isoform 6.
VSP_037394
Alternative sequence402 – 46665NNELQ…KKTLT → VTFSTK in isoform 7.
VSP_037395
Alternative sequence435 – 46632SQTGR…KKTLT → RLPFRQNDSSSHCQKSGSPI SSEERRRRDKQHLDDITAAR LLPLHHMPTQLLSIEESLAL QKQQKQNYEEMQAKLAAQKL AERLNIKMRSYNPEGESSGR YREVRDEDDDWSSDEF in isoform 11.
VSP_037397
Alternative sequence435 – 46632SQTGR…KKTLT → RRCKQSSQRKN in isoform 2.
VSP_037398
Alternative sequence435 – 46632SQTGR…KKTLT → RQSRKFEKVLNEFVQLLPLP HHLLWAFGNVCWRRHFGLLQ in isoform 9.
VSP_037396
Natural variant2771A → V. Ref.2 Ref.3
Corresponds to variant rs16977629 [ dbSNP | Ensembl ].
VAR_055453

Experimental info

Mutagenesis4361Q → G: No effect on DYNLL1-binding; when associated with G-448. Ref.9
Mutagenesis4481R → G: No effect on DYNLL1-binding; when associated with G-436. Ref.9
Mutagenesis4501Y → G: No effect on DYNLL1-binding. Ref.9
Sequence conflict144 – 1463Missing in ADA68358. Ref.2

Secondary structure

... 466
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (Gcom8) (Gup1) [UniParc].

Last modified May 26, 2009. Version 1.
Checksum: 2A6B9C464B8641B4

FASTA46654,206
        10         20         30         40         50         60 
MLRSTSTVTL LSGGAARTPG APSRRANVCR LRLTVPPESP VPEQCEKKIE RKEQLLDLSN 

        70         80         90        100        110        120 
GEPTRKLPQG VVYGVVRRSD QNQQKEMVVY GWSTSQLKEE MNYIKDVRAT LEKVRKRMYG 

       130        140        150        160        170        180 
DYDEMRQKIR QLTQELSVSH AQQEYLENHI QTQSSALDRF NAMNSALASD SIGLQKTLVD 

       190        200        210        220        230        240 
VTLENSNIKD QIRNLQQTYE ASMDKLREKQ RQLEVAQVEN QLLKMKVESS QEANAEVMRE 

       250        260        270        280        290        300 
MTKKLYSQYE EKLQEEQRKH SAEKEALLEE TNSFLKAIEE ANKKMQAAEI SLEEKDQRIG 

       310        320        330        340        350        360 
ELDRLIERME KERHQLQLQL LEHETEMSGE LTDSDKERYQ QLEEASASLR ERIRHLDDMV 

       370        380        390        400        410        420 
HCQQKKVKQM VEEIESLKKK LQQKQLLILQ LLEKISFLEG ENNELQSRLD YLTETQAKTE 

       430        440        450        460 
VETREIGVGC DLLPSQTGRT REIVMPSRNY TPYTRVLELT MKKTLT 

« Hide

Isoform 2 (Gcom2) [UniParc].

Checksum: B5586CECD9FE1E47
Show »

FASTA44551,824
Isoform 3 (Gcom13) [UniParc].

Checksum: 50120C5144877080
Show »

FASTA43550,381
Isoform 4 (Gcom9) (Gup2) [UniParc].

Checksum: C87A8E4F6C075852
Show »

FASTA43850,913
Isoform 5 (Gcom10) [UniParc].

Checksum: 8188CE8C6E4A4EBF
Show »

FASTA39045,519
Isoform 6 (Gcom3) [UniParc].

Checksum: A2F670D7A9752679
Show »

FASTA41448,149
Isoform 7 (Gcom4) [UniParc].

Checksum: 498D9F157C6B072E
Show »

FASTA40747,397
Isoform 8 (Gcom5) [UniParc].

Checksum: 981B1A2DA4E222F9
Show »

FASTA37944,104
Isoform 9 (Gcom6) [UniParc].

Checksum: F58E12AF16EE9267
Show »

FASTA41548,231
Isoform 10 (Gcom11) [UniParc].

Checksum: 9F313D3BC8F5CBEF
Show »

FASTA39746,224
Isoform 11 (Gcom1) (GRINL1A complex locus protein 1) [UniParc].

Checksum: 6A30A8464C3EA8CB
Show »

FASTA55064,046

References

« Hide 'large scale' references
[1]"The human GRINL1A gene defines a complex transcription unit, an unusual form of gene organization in eukaryotes."
Roginski R.S., Mohan Raj B.K., Birditt B., Rowen L.
Genomics 84:265-276(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6; 7; 8; 9; 10 AND 11), TISSUE SPECIFICITY.
Tissue: Brain and Lung.
[2]"Myozap, a novel intercalated disc protein, activates serum response factor-dependent signaling and is required to maintain cardiac function in vivo."
Seeger T.S., Frank D., Rohr C., Will R., Just S., Grund C., Lyon R., Luedde M., Koegl M., Sheikh F., Rottbauer W., Franke W.W., Katus H.A., Olson E.N., Frey N.
Circ. Res. 106:880-890(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT VAL-277, TISSUE SPECIFICITY.
[3]"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 1), VARIANT VAL-277.
Tissue: Heart.
[4]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]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].
[6]"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: Brain cortex.
[7]"GRINL1A colocalizes with N-methyl D-aspartate receptor NR1 subunit and reduces N-methyl D-aspartate toxicity."
Roginski R.S., Goubaeva F., Mikami M., Fried-Cassorla E., Nair M.R., Yang J.
NeuroReport 19:1721-1726(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH GRIN1, SUBCELLULAR LOCATION.
[8]"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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"Structural basis for the interaction between dynein light chain 1 and the glutamate channel homolog GRINL1A."
Garcia-Mayoral M.F., Martinez-Moreno M., Albar J.P., Rodriguez-Crespo I., Bruix M.
FEBS J. 277:2340-2350(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH DYNLL1, MUTAGENESIS OF GLN-436; ARG-448 AND TYR-450.
[10]"Cdc42-dependent formation of the ZO-1/MRCKbeta complex at the leading edge controls cell migration."
Huo L., Wen W., Wang R., Kam C., Xia J., Feng W., Zhang M.
EMBO J. 30:665-678(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: STRUCTURE BY NMR OF 70-79 IN COMPLEX WITH TJP1, SUBCELLULAR LOCATION, INTERACTION WITH TJP1.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY207007 mRNA. Translation: AAO39707.1.
AY207459 mRNA. Translation: AAP41548.1.
AY208913 mRNA. Translation: AAP41549.1.
AY237639 mRNA. Translation: AAP75897.1.
AY331564 mRNA. Translation: AAQ76825.1.
AY333779 mRNA. Translation: AAQ76826.1.
AY334560 mRNA. Translation: AAQ76827.1.
AY334561 mRNA. Translation: AAQ76828.1.
AY334562 mRNA. Translation: AAQ76829.1.
AY341345 mRNA. Translation: AAQ76831.1.
AY353056 mRNA. Translation: AAQ76832.1.
AY353057 mRNA. Translation: AAQ76833.1.
AY353058 mRNA. Translation: AAQ76834.1.
AY353060 mRNA. Translation: AAQ76836.1.
FJ970029 mRNA. Translation: ADA68358.1.
AK055535 mRNA. Translation: BAB70944.1.
AC025271 Genomic DNA. No translation available.
AC090651 Genomic DNA. No translation available.
CH471082 Genomic DNA. Translation: EAW77522.1.
CH471082 Genomic DNA. Translation: EAW77527.1.
BC101645 mRNA. Translation: AAI01646.1.
BC112148 mRNA. Translation: AAI12149.1.
CCDSCCDS10162.1. [P0CAP1-1]
CCDS42044.1. [P0CAP1-4]
RefSeqNP_001018100.1. NM_001018090.6. [P0CAP1-11]
NP_001018101.1. NM_001018091.6. [P0CAP1-2]
NP_001018110.1. NM_001018100.4.
NP_001018112.1. NM_001018102.2.
NP_689664.3. NM_152451.7. [P0CAP1-4]
UniGeneHs.437256.
Hs.702937.
Hs.711270.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2KXSNMR-A70-79[»]
ProteinModelPortalP0CAP1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123498. 19 interactions.
IntActP0CAP1. 1 interaction.
MINTMINT-1370040.

PTM databases

PhosphoSiteP0CAP1.

Polymorphism databases

DMDM238064959.

Proteomic databases

PaxDbP0CAP1.
PRIDEP0CAP1.

Protocols and materials databases

DNASU81488.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000267853; ENSP00000267853; ENSG00000263155. [P0CAP1-1]
ENST00000380565; ENSP00000369939; ENSG00000263155. [P0CAP1-4]
GeneID100820829.
145781.
81488.
KEGGhsa:100820829.
hsa:145781.
hsa:81488.
UCSCuc002aei.3. human. [P0CAP1-1]
uc002aej.3. human. [P0CAP1-4]
uc002aem.3. human. [P0CAP1-11]
uc002aeo.3. human. [P0CAP1-2]

Organism-specific databases

CTD100820829.
145781.
81488.
GeneCardsGC15P057887.
HGNCHGNC:43444. MYZAP.
HPAHPA039827.
MIM614071. gene.
neXtProtNX_P0CAP1.
PharmGKBPA28986.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG81402.
OrthoDBEOG79PJPG.
PhylomeDBP0CAP1.

Gene expression databases

BgeeP0CAP1.
GenevestigatorP0CAP1.

Family and domain databases

InterProIPR028273. Myozap.
[Graphical view]
PANTHERPTHR23171:SF2. PTHR23171:SF2. 1 hit.
ProtoNetSearch...

Other

ChiTaRSMYZAP. human.
EvolutionaryTraceP0CAP1.
GeneWikiGRINL1A.
NextBio71714.
PROP0CAP1.
SOURCESearch...

Entry information

Entry nameMYZAP_HUMAN
AccessionPrimary (citable) accession number: P0CAP1
Secondary accession number(s): D2E9U7 expand/collapse secondary AC list , Q6EER8, Q6EES2, Q6EEV3, Q6EF00, Q6EF01, Q6EF02, Q6EF46, Q6EFN8, Q6EM48, Q6K046, Q6K050, Q6K051, Q6ZQZ3, Q8NC58, Q8NCF3, Q96DI5, Q96JB7, Q96NF5
Entry history
Integrated into UniProtKB/Swiss-Prot: May 26, 2009
Last sequence update: May 26, 2009
Last modified: July 9, 2014
This is version 50 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 15

Human chromosome 15: entries, gene names and cross-references to MIM