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Q96JN2

- CC136_HUMAN

UniProt

Q96JN2 - CC136_HUMAN

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Protein
Coiled-coil domain-containing protein 136
Gene
CCDC136, KIAA1793, NAG6
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5 - Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 136
Alternative name(s):
Nasopharyngeal carcinoma-associated gene 6 protein
Gene namesi
Name:CCDC136
Synonyms:KIAA1793
ORF Names:NAG6
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:22225. CCDC136.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei1130 – 115021Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrion Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162381381.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11541154Coiled-coil domain-containing protein 136
PRO_0000300639Add
BLAST

Proteomic databases

MaxQBiQ96JN2.
PaxDbiQ96JN2.
PRIDEiQ96JN2.

PTM databases

PhosphoSiteiQ96JN2.

Expressioni

Tissue specificityi

Expressed in gastric tissues. Down-regulated in gastric cancer.1 Publication

Gene expression databases

ArrayExpressiQ96JN2.
BgeeiQ96JN2.
CleanExiHS_CCDC136.
GenevestigatoriQ96JN2.

Organism-specific databases

HPAiHPA010647.

Interactioni

Protein-protein interaction databases

BioGridi122267. 8 interactions.
IntActiQ96JN2. 8 interactions.
STRINGi9606.ENSP00000297788.

Structurei

3D structure databases

ProteinModelPortaliQ96JN2.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili696 – 73338 Reviewed prediction
Add
BLAST
Coiled coili859 – 974116 Reviewed prediction
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi5 – 337333Glu-rich
Add
BLAST
Compositional biasi771 – 83464Ser-rich
Add
BLAST
Compositional biasi1036 – 111075Glu-rich
Add
BLAST

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG131615.
HOVERGENiHBG107598.
InParanoidiQ96JN2.
OMAiQLQMEQC.
OrthoDBiEOG7X0VGH.
PhylomeDBiQ96JN2.
TreeFamiTF350490.

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96JN2-1) [UniParc]FASTAAdd to Basket

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

MQAMEGEVLL PALYEEEEEE EEEEEEVEEE EEQVQKGGSV GSLSVNKHRG     50
LSLTETELEE LRAQVLQLVA ELEETRELAG QHEDDSLELQ GLLEDERLAS 100
AQQAEVFTKQ IQQLQGELRS LREEISLLEH EKESELKEIE QELHLAQAEI 150
QSLRQAAEDS ATEHESDIAS LQEDLCRMQN ELEDMERIRG DYEMEIASLR 200
AEMEMKSSEP SGSLGLSDYS GLQEELQELR ERYHFLNEEY RALQESNSSL 250
TGQLADLESE RTQRATERWL QSQTLSMTSA ESQTSEMDFL EPDPEMQLLR 300
QQLRDAEEQM HGMKNKCQEL CCELEELQHH RQVSEEEQRR LQRELKCAQN 350
EVLRFQTSHS VTQNEELKSR LCTLQKKYDT SQDEQNELLK MQLQLQTELR 400
QLKVMKSTLV ENQSEKELLC RLQKLHLQHQ NVTCEKEKLL ERQQQLQEEL 450
QCHEAELQHL RDTVASFKES NEKDTETHAQ LQEMKQLYQA SKDELERQKH 500
MYDQLEQDLL LCQLELKELK ASHPIPEDKG KCANKCDTLL SRLTELQEKY 550
KASQKEMGQL QMEQCELLED QRRMQEEQGQ LQEELHRLTL PLPKSGLLLK 600
SQELLTKLED LCELQLLYQG MQEEQKKLIQ NQDCVLKEQL EIHEELRRFK 650
ESHFQEVLEN PDDSKLAKSS KCNRNKQSKL LMEQMQALQV MYDAGQAKQE 700
LLQQEQGRLL EERKRLQADL QLCLEEMQLL QVQSPSIKMS LESYGKSYGS 750
MVPSNENCRK TYDTTVDDNE SYYKSYTSTQ TSSKSFLKSY DSSTSASEAY 800
GKSYCTTSNS SITYKKSYGS TSSSDTCQKS FVSSCTDEEP AEPEDMERFE 850
EMVVKVLIKL QAVQAMYQIS QEEHSQLQEQ MEKLLAKQKD LKEELDACER 900
EFKECMECLE KPMAPQNDKN EIKELQTKLR ELQLQYQASM DEQGRLLVVQ 950
EQLEGQLQCC QEELRQLREK RPSVVKEARG KNANKNMNKN ANGVKMKKVT 1000
KPCSDTSESD LETRKSLEVV LYYKASQRKL DGLAKEEEKK EEMEEEKKQV 1050
KEEAKEQCGD ELVAEPADPE EAKSTEDQEE NEEDKEEEEK EEDSEEEEDD 1100
ADSSLESPEE NNPLRLSESK KSSPTPNPPI FSLPLVGLVV ISALLWCWWA 1150
ETSS 1154
Length:1,154
Mass (Da):134,045
Last modified:May 18, 2010 - v3
Checksum:iFBB50829AB97E425
GO
Isoform 2 (identifier: Q96JN2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     922-957: IKELQTKLRELQLQYQASMDEQGRLLVVQEQLEGQL → NMFGLWKPMVFLAIAAVALYVLPNMRQQESEFCLME
     958-1154: Missing.

Note: No experimental confirmation available.

Show »
Length:957
Mass (Da):111,548
Checksum:iDD6A801C6E538D62
GO
Isoform 3 (identifier: Q96JN2-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MEAGAGAGAGAAGWSCPGPGPTVTTLGSYEASEGCERKKGQRWGSLERRGM
     212-223: Missing.
     364-1121: Missing.

Note: No experimental confirmation available.

Show »
Length:434
Mass (Da):49,449
Checksum:iF3C01606AC2030A3
GO
Isoform 4 (identifier: Q96JN2-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1122-1154: SSPTPNPPIFSLPLVGLVVISALLWCWWAETSS → NMFGLWKPMVFLAIAAVALYVLPNMRQQESEFCLME

Note: No experimental confirmation available.

Show »
Length:1,157
Mass (Da):134,668
Checksum:iA96EF279E8202DAD
GO

Sequence cautioni

The sequence AF156971 differs from that shown. Reason: Intron retention.
The sequence BAB14590.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAB47422.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti218 – 2181D → H.
Corresponds to variant rs3816887 [ dbSNP | Ensembl ].
VAR_034880
Natural varianti1049 – 10491Q → E.5 Publications
Corresponds to variant rs4728137 [ dbSNP | Ensembl ].
VAR_034881

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MEAGAGAGAGAAGWSCPGPG PTVTTLGSYEASEGCERKKG QRWGSLERRGM in isoform 3.
VSP_027840
Alternative sequencei212 – 22312Missing in isoform 3.
VSP_027841Add
BLAST
Alternative sequencei364 – 1121758Missing in isoform 3.
VSP_027842Add
BLAST
Alternative sequencei922 – 95736IKELQ…LEGQL → NMFGLWKPMVFLAIAAVALY VLPNMRQQESEFCLME in isoform 2.
VSP_027843Add
BLAST
Alternative sequencei958 – 1154197Missing in isoform 2.
VSP_027844Add
BLAST
Alternative sequencei1122 – 115433SSPTP…AETSS → NMFGLWKPMVFLAIAAVALY VLPNMRQQESEFCLME in isoform 4.
VSP_027845Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti263 – 2642QR → HG in CAB61359. 1 Publication
Sequence conflicti490 – 4901A → V in BAB14590. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB058696 mRNA. Translation: BAB47422.1. Different initiation.
AK023500 mRNA. Translation: BAB14590.1. Different initiation.
AK124447 mRNA. Translation: BAC85854.1.
AC024952 Genomic DNA. No translation available.
AC025594 Genomic DNA. No translation available.
CH236950 Genomic DNA. Translation: EAL24111.1.
CH471070 Genomic DNA. Translation: EAW83682.1.
CH471070 Genomic DNA. Translation: EAW83684.1.
BC150331 mRNA. Translation: AAI50332.1.
BC152408 mRNA. Translation: AAI52409.1.
AL133027 mRNA. Translation: CAB61359.1.
AF156971 mRNA. No translation available.
CCDSiCCDS47704.1. [Q96JN2-1]
CCDS56510.1. [Q96JN2-3]
PIRiT42701.
RefSeqiNP_001188301.1. NM_001201372.1. [Q96JN2-3]
NP_073579.4. NM_022742.4.
UniGeneiHs.521178.

Genome annotation databases

EnsembliENST00000297788; ENSP00000297788; ENSG00000128596. [Q96JN2-1]
ENST00000378685; ENSP00000367956; ENSG00000128596. [Q96JN2-3]
GeneIDi64753.
KEGGihsa:64753.
UCSCiuc003vnu.2. human. [Q96JN2-3]
uc003vnv.2. human. [Q96JN2-1]
uc003vny.2. human. [Q96JN2-2]

Polymorphism databases

DMDMi296439415.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AB058696 mRNA. Translation: BAB47422.1 . Different initiation.
AK023500 mRNA. Translation: BAB14590.1 . Different initiation.
AK124447 mRNA. Translation: BAC85854.1 .
AC024952 Genomic DNA. No translation available.
AC025594 Genomic DNA. No translation available.
CH236950 Genomic DNA. Translation: EAL24111.1 .
CH471070 Genomic DNA. Translation: EAW83682.1 .
CH471070 Genomic DNA. Translation: EAW83684.1 .
BC150331 mRNA. Translation: AAI50332.1 .
BC152408 mRNA. Translation: AAI52409.1 .
AL133027 mRNA. Translation: CAB61359.1 .
AF156971 mRNA. No translation available.
CCDSi CCDS47704.1. [Q96JN2-1 ]
CCDS56510.1. [Q96JN2-3 ]
PIRi T42701.
RefSeqi NP_001188301.1. NM_001201372.1. [Q96JN2-3 ]
NP_073579.4. NM_022742.4.
UniGenei Hs.521178.

3D structure databases

ProteinModelPortali Q96JN2.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122267. 8 interactions.
IntActi Q96JN2. 8 interactions.
STRINGi 9606.ENSP00000297788.

PTM databases

PhosphoSitei Q96JN2.

Polymorphism databases

DMDMi 296439415.

Proteomic databases

MaxQBi Q96JN2.
PaxDbi Q96JN2.
PRIDEi Q96JN2.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000297788 ; ENSP00000297788 ; ENSG00000128596 . [Q96JN2-1 ]
ENST00000378685 ; ENSP00000367956 ; ENSG00000128596 . [Q96JN2-3 ]
GeneIDi 64753.
KEGGi hsa:64753.
UCSCi uc003vnu.2. human. [Q96JN2-3 ]
uc003vnv.2. human. [Q96JN2-1 ]
uc003vny.2. human. [Q96JN2-2 ]

Organism-specific databases

CTDi 64753.
GeneCardsi GC07P128430.
HGNCi HGNC:22225. CCDC136.
HPAi HPA010647.
MIMi 611902. gene.
neXtProti NX_Q96JN2.
PharmGKBi PA162381381.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG131615.
HOVERGENi HBG107598.
InParanoidi Q96JN2.
OMAi QLQMEQC.
OrthoDBi EOG7X0VGH.
PhylomeDBi Q96JN2.
TreeFami TF350490.

Miscellaneous databases

GenomeRNAii 64753.
NextBioi 66713.
PROi Q96JN2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q96JN2.
Bgeei Q96JN2.
CleanExi HS_CCDC136.
Genevestigatori Q96JN2.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
    DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT GLU-1049.
    Tissue: Brain.
  2. "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] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 410-1154 (ISOFORM 2).
    Tissue: Cerebellum and Placenta.
  3. "The DNA sequence of human chromosome 7."
    Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L.
    , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
    Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "Human chromosome 7: DNA sequence and biology."
    Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S.
    , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C.
    Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-1049.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT GLU-1049.
  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), VARIANT GLU-1049.
    Tissue: Brain.
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 125-1154 (ISOFORM 4), VARIANT GLU-1049.
    Tissue: Testis.
  8. "Expression of tumor related gene NAG6 in gastric cancer and restriction fragment length polymorphism analysis."
    Zhang X.-M., Sheng S.-R., Wang X.-Y., Bin L.-H., Wang J.-R., Li G.-Y.
    World J. Gastroenterol. 10:1361-1364(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1128-1154 (ISOFORM 4), TISSUE SPECIFICITY.
    Tissue: Nasopharyngeal carcinoma.

Entry informationi

Entry nameiCC136_HUMAN
AccessioniPrimary (citable) accession number: Q96JN2
Secondary accession number(s): A4D1K1
, A7MCY7, A8MYA7, Q6ZVK7, Q9H8M3, Q9UFE1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 80 of the entry and version 3 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

Miscellaneous

Restriction fragment length polymorphisms (RFLPs) in gastric cancer showed loss of 5 kb fragment in comparison with the corresponding normal tissue.

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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

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