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Q7Z4T9

- MAAT1_HUMAN

UniProt

Q7Z4T9 - MAAT1_HUMAN

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Protein

Protein MAATS1

Gene

MAATS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Isoform 4 may play a role in spermatogenesis.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Protein MAATS1
Alternative name(s):
AMY-1-associating protein expressed in testis 1
Short name:
AAT-1
MYCBP/AMY-1-associated testis-expressed protein 1
Gene namesi
Name:MAATS1
Synonyms:AAT1, C3orf15
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:24010. MAATS1.

Subcellular locationi

Cytoplasm. Mitochondrion
Note: Isoform 4 is found in the mitochondria and localized in the neck of the sperm.

GO - Cellular componenti

  1. mitochondrion Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134904689.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 603603Protein MAATS1PRO_0000064417Add
BLAST

Post-translational modificationi

Isoform 4 is phosphorylated by PKA.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ7Z4T9.
PRIDEiQ7Z4T9.

PTM databases

PhosphoSiteiQ7Z4T9.

Expressioni

Tissue specificityi

Isoform 1 is strongly expressed in the liver. Isoform 4 is widely expressed, but strongly expressed in all spermatogenesis-related tissues, including the testis, the epithelium of cauda and the corpus epididymis, as well as the spermatid and mature sperm. Isoform 4 is also expressed in Leydig cells. Isoform 3 is expressed in the testis.

Gene expression databases

BgeeiQ7Z4T9.
CleanExiHS_C3orf15.
ExpressionAtlasiQ7Z4T9. baseline and differential.
GenevestigatoriQ7Z4T9.

Organism-specific databases

HPAiHPA035610.

Interactioni

Subunit structurei

Interacts with MYCBP and AKAP1. Isoform 4 is part of a complex containing MYCBP, AKAP1 and PRKAR2B. Isoform 3 does not interact with MYCBP.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
AKAP1Q92667-23EBI-2119735,EBI-2120060
MYCBPQ994175EBI-2119735,EBI-716185

Protein-protein interaction databases

BioGridi124630. 4 interactions.
IntActiQ7Z4T9. 3 interactions.
STRINGi9606.ENSP00000273390.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili264 – 31047Sequence AnalysisAdd
BLAST
Coiled coili367 – 43165Sequence AnalysisAdd
BLAST
Coiled coili487 – 51933Sequence AnalysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG84773.
GeneTreeiENSGT00390000003024.
HOVERGENiHBG079422.
InParanoidiQ7Z4T9.
OMAiREEDQIF.
OrthoDBiEOG776SPK.
PhylomeDBiQ7Z4T9.
TreeFamiTF328648.

Family and domain databases

InterProiIPR026720. MAATS1.
[Graphical view]
PANTHERiPTHR22455:SF10. PTHR22455:SF10. 1 hit.

Sequences (8)i

Sequence statusi: Complete.

This entry describes 8 isoformsi produced by alternative promoter usage and alternative splicing. Align

Note: Additional isoforms (AAT-1L and AAT-1S) may exist.

Isoform 1 (identifier: Q7Z4T9-1) [UniParc]FASTAAdd to Basket

Also known as: AAT-1M

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.

« Hide

        10         20         30         40         50
MSHAVTIEEP QAQPQVSQTR YRERSRAGSH ISSNRAYDFL YDPLFIVSSE
60 70 80 90 100
KDHTQANIQA TLIRSRLRKV PRFKTMFSNL IHYPRYSLYW SKSDPVPPFI
110 120 130 140 150
SREWKGHKEK HREALRQLTT TDASFQMPKE VYEDPEVTGK NRYKYFERPF
160 170 180 190 200
LPFFQQMPFN VVYAVSKAEP YTFPPTSTKH LSIPSKSTVG TQTDYRDADV
210 220 230 240 250
QTDPYSAEYV VCQDSIPELL TLATLTWGRG LPAGQAEVEM IERAREKRAW
260 270 280 290 300
EASLPALSDT SQFEKRRKMM NEMERKEWAF REQEIEKLQE IRLEVLKELL
310 320 330 340 350
RKREENQNEV NMKHLNARWS KLQEGKEAKM AVIYLQKLLR GRVVQNMMFE
360 370 380 390 400
GKEKRLELIQ ELRTCHALQE DEKLVKKAEK QVTLALQRQR NLHEHKVSLV
410 420 430 440 450
ENHLAGLEGR ALADMFDFLS KELVRLQEER RIHAFVMLAE RQRRVREAEE
460 470 480 490 500
SGRRQVEKQR LREEDEIFKE VVKVHHSTIS SYLEDIILNT EANTAEEQAR
510 520 530 540 550
AEIEKMAEKI NDIAYEMESR RTYLQSEEIV AELVYSFLIP EVQKYFVKEK
560 570 580 590 600
VRNAQRKHIL AAHQIIHSYT ESMVQKKLTE GEQDEASNAA MLLEKETQNE

NNS
Length:603
Mass (Da):70,999
Last modified:July 13, 2010 - v2
Checksum:i9E12D39628531C85
GO
Isoform 2 (identifier: Q7Z4T9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     229-238: RGLPAGQAEV → ELVNLLTIGR
     239-603: Missing.

Note: No experimental confirmation available.

Show »
Length:238
Mass (Da):27,681
Checksum:i3027802089EE0021
GO
Isoform 3 (identifier: Q7Z4T9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-67: MSHAVTIEEPQAQPQVSQTRYRERSRAGSHISSNRAYDFLYDPLFIVSSEKDHTQANIQATLIRSRL → MIFCT
     331-331: A → AKIQRTHVST...SNEEEEMEMA

Show »
Length:705
Mass (Da):82,865
Checksum:iD1B7B755EB991FCD
GO
Isoform 4 (identifier: Q7Z4T9-4) [UniParc]FASTAAdd to Basket

Also known as: AAT1-alpha

The sequence of this isoform differs from the canonical sequence as follows:
     1-505: Missing.

Note: May be produced by alternative promoter usage.

Show »
Length:98
Mass (Da):11,450
Checksum:i6A8756FFB5021B88
GO
Isoform 6 (identifier: Q7Z4T9-6) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-126: Missing.
     331-331: A → AKIQRTHVST...SNEEEEMEMA

Show »
Length:641
Mass (Da):75,093
Checksum:i20323F064BBBE3A7
GO
Isoform 7 (identifier: Q7Z4T9-7) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     331-331: A → AKIQRTHVST...SNEEEEMEMA

Show »
Length:767
Mass (Da):89,955
Checksum:i7EBE6F798C496845
GO
Isoform 8 (identifier: Q7Z4T9-8) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-41: MSHAVTIEEPQAQPQVSQTRYRERSRAGSHISSNRAYDFLY → MIFCTVRTAADLPLRPSPPRP
     331-331: A → AKIQRTHVST...SNEEEEMEMA

Show »
Length:747
Mass (Da):87,525
Checksum:iC6B6FB166DEA3DA1
GO
Isoform 5 (identifier: Q7Z4T9-5) [UniParc]FASTAAdd to Basket

Also known as: AAT1-beta, AAT1-gamma

The sequence of this isoform differs from the canonical sequence as follows:
     1-572: Missing.

Note: May be produced by alternative promoter usage.

Show »
Length:31
Mass (Da):3,481
Checksum:i227F73754782900C
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti311 – 3111N → D in BAG51535. (PubMed:14702039)Curated
Sequence conflicti344 – 3441V → I in AAP97317. 1 PublicationCurated
Sequence conflicti460 – 4601R → C in BAG51535. (PubMed:14702039)Curated
Sequence conflicti485 – 4851D → A in CAH18098. (PubMed:17974005)Curated
Sequence conflicti516 – 5161E → G in BAG63926. (PubMed:14702039)Curated
Isoform 7 (identifier: Q7Z4T9-7)
Sequence conflicti362 – 3621K → R in BAF82603. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti207 – 2071A → P.4 Publications
Corresponds to variant rs6438544 [ dbSNP | Ensembl ].
VAR_030243
Natural varianti253 – 2531S → T.
Corresponds to variant rs9817771 [ dbSNP | Ensembl ].
VAR_030244
Natural varianti320 – 3201S → C.
Corresponds to variant rs9819218 [ dbSNP | Ensembl ].
VAR_030245

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 572572Missing in isoform 5. 1 PublicationVSP_014909Add
BLAST
Alternative sequencei1 – 505505Missing in isoform 4. 1 PublicationVSP_014908Add
BLAST
Alternative sequencei1 – 126126Missing in isoform 6. 1 PublicationVSP_039503Add
BLAST
Alternative sequencei1 – 6767MSHAV…IRSRL → MIFCT in isoform 3. 1 PublicationVSP_014907Add
BLAST
Alternative sequencei1 – 4141MSHAV…YDFLY → MIFCTVRTAADLPLRPSPPR P in isoform 8. 1 PublicationVSP_039504Add
BLAST
Alternative sequencei229 – 23810RGLPAGQAEV → ELVNLLTIGR in isoform 2. 1 PublicationVSP_014910
Alternative sequencei239 – 603365Missing in isoform 2. 1 PublicationVSP_014911Add
BLAST
Alternative sequencei331 – 3311A → AKIQRTHVSTIRKLVGKRKN IEGKLERRNIIKDYSDYASQ VYGPLSRLGCFPDNNSEDFV VKNYYLNTYEGLVELESCLP DFVTQPQIRAPKPKVITTKA GFLKRAARLDYELAEVHKAL LDKKNKVLEVKKPPRFLQRN PIPQPRLPTPTLEMTSNEEE EMEMA in isoform 3, isoform 6, isoform 7 and isoform 8. 3 PublicationsVSP_014912

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB063296 mRNA. Translation: BAB60902.1.
AB063297 mRNA. Translation: BAB60903.1.
AB063298 mRNA. Translation: BAB60904.1.
AF440403 mRNA. Translation: AAP97317.1.
AF497717 mRNA. Translation: AAM19218.1.
AK055558 mRNA. Translation: BAG51535.1.
AK289914 mRNA. Translation: BAF82603.1.
AK294413 mRNA. Translation: BAG57663.1.
AK302699 mRNA. Translation: BAG63926.1.
CR749242 mRNA. Translation: CAH18098.1.
AC117466 Genomic DNA. No translation available.
AC069444 Genomic DNA. No translation available.
BC126394 mRNA. Translation: AAI26395.1.
CCDSiCCDS2994.1. [Q7Z4T9-7]
RefSeqiNP_203528.2. NM_033364.3.
UniGeneiHs.341906.

Genome annotation databases

EnsembliENST00000273390; ENSP00000273390; ENSG00000183833. [Q7Z4T9-7]
ENST00000463700; ENSP00000419489; ENSG00000183833. [Q7Z4T9-2]
GeneIDi89876.
KEGGihsa:89876.
UCSCiuc003edc.2. human. [Q7Z4T9-2]
uc003ede.4. human. [Q7Z4T9-7]
uc010hqz.3. human. [Q7Z4T9-3]
uc011bjd.2. human. [Q7Z4T9-6]
uc011bje.2. human. [Q7Z4T9-8]

Polymorphism databases

DMDMi300669603.

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB063296 mRNA. Translation: BAB60902.1 .
AB063297 mRNA. Translation: BAB60903.1 .
AB063298 mRNA. Translation: BAB60904.1 .
AF440403 mRNA. Translation: AAP97317.1 .
AF497717 mRNA. Translation: AAM19218.1 .
AK055558 mRNA. Translation: BAG51535.1 .
AK289914 mRNA. Translation: BAF82603.1 .
AK294413 mRNA. Translation: BAG57663.1 .
AK302699 mRNA. Translation: BAG63926.1 .
CR749242 mRNA. Translation: CAH18098.1 .
AC117466 Genomic DNA. No translation available.
AC069444 Genomic DNA. No translation available.
BC126394 mRNA. Translation: AAI26395.1 .
CCDSi CCDS2994.1. [Q7Z4T9-7 ]
RefSeqi NP_203528.2. NM_033364.3.
UniGenei Hs.341906.

3D structure databases

ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124630. 4 interactions.
IntActi Q7Z4T9. 3 interactions.
STRINGi 9606.ENSP00000273390.

PTM databases

PhosphoSitei Q7Z4T9.

Polymorphism databases

DMDMi 300669603.

Proteomic databases

PaxDbi Q7Z4T9.
PRIDEi Q7Z4T9.

Protocols and materials databases

DNASUi 89876.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000273390 ; ENSP00000273390 ; ENSG00000183833 . [Q7Z4T9-7 ]
ENST00000463700 ; ENSP00000419489 ; ENSG00000183833 . [Q7Z4T9-2 ]
GeneIDi 89876.
KEGGi hsa:89876.
UCSCi uc003edc.2. human. [Q7Z4T9-2 ]
uc003ede.4. human. [Q7Z4T9-7 ]
uc010hqz.3. human. [Q7Z4T9-3 ]
uc011bjd.2. human. [Q7Z4T9-6 ]
uc011bje.2. human. [Q7Z4T9-8 ]

Organism-specific databases

CTDi 89876.
GeneCardsi GC03P119422.
HGNCi HGNC:24010. MAATS1.
HPAi HPA035610.
MIMi 609910. gene.
neXtProti NX_Q7Z4T9.
PharmGKBi PA134904689.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG84773.
GeneTreei ENSGT00390000003024.
HOVERGENi HBG079422.
InParanoidi Q7Z4T9.
OMAi REEDQIF.
OrthoDBi EOG776SPK.
PhylomeDBi Q7Z4T9.
TreeFami TF328648.

Miscellaneous databases

GeneWikii C3orf15.
GenomeRNAii 89876.
NextBioi 76384.
PROi Q7Z4T9.
SOURCEi Search...

Gene expression databases

Bgeei Q7Z4T9.
CleanExi HS_C3orf15.
ExpressionAtlasi Q7Z4T9. baseline and differential.
Genevestigatori Q7Z4T9.

Family and domain databases

InterProi IPR026720. MAATS1.
[Graphical view ]
PANTHERi PTHR22455:SF10. PTHR22455:SF10. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "AAT-1, a novel testis-specific AMY-1-binding protein, forms a quaternary complex between AMY-1, A-kinase anchor protein 84 and a regulatory subunit of cAMP-dependent protein kinase and is phosphorylated by its kinase."
    Yukitake H., Furusawa M., Taira T., Iguchi-Ariga S.M.M., Ariga H.
    J. Biol. Chem. 277:45480-45492(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 4 AND 5), FUNCTION, INTERACTION WITH MYCBP AND AKAP1, PHOSPHORYLATION.
    Tissue: Testis.
  2. Guo J.H., Yu L.
    Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT PRO-207.
    Tissue: Lung.
  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.
    , 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 6; 7 AND 8), VARIANT PRO-207.
    Tissue: Amygdala, Corpus callosum, Lung and Testis.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT PRO-207.
    Tissue: Testis.
  5. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    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 7), VARIANT PRO-207.
    Tissue: Lung.
  7. Cited for: ALTERNATIVE SPLICING, INTERACTION WITH MYCBP, TISSUE SPECIFICITY (ISOFORM 1).

Entry informationi

Entry nameiMAAT1_HUMAN
AccessioniPrimary (citable) accession number: Q7Z4T9
Secondary accession number(s): A0AVK2
, A8K1J9, B3KP23, B4DG52, B4DZ14, C9JUG4, Q68DX2, Q8TD41, Q96A45, Q96JE8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: July 13, 2010
Last modified: October 29, 2014
This is version 88 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3