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O60443

- DFNA5_HUMAN

UniProt

O60443 - DFNA5_HUMAN

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Protein

Non-syndromic hearing impairment protein 5

Gene

DFNA5

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

Functioni

Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53.3 Publications

GO - Biological processi

  1. apoptotic process Source: UniProtKB-KW
  2. inner ear receptor cell differentiation Source: Ensembl
  3. negative regulation of cell proliferation Source: UniProtKB
  4. positive regulation of intrinsic apoptotic signaling pathway Source: UniProtKB
  5. sensory perception of sound Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Apoptosis

Names & Taxonomyi

Protein namesi
Recommended name:
Non-syndromic hearing impairment protein 5
Alternative name(s):
Inversely correlated with estrogen receptor expression 1
Short name:
ICERE-1
Gene namesi
Name:DFNA5
Synonyms:ICERE1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:2810. DFNA5.

Subcellular locationi

GO - Cellular componenti

  1. cytoplasm Source: HPA
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Deafness, autosomal dominant, 5 (DFNA5) [MIM:600994]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Is a tumor suppressor gene with an important role in major types of tumors. Could be a valuable molecular marker in cancer.

Keywords - Diseasei

Deafness, Non-syndromic deafness, Tumor suppressor

Organism-specific databases

MIMi600994. phenotype.
Orphaneti90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
PharmGKBiPA27281.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 496496Non-syndromic hearing impairment protein 5PRO_0000148178Add
BLAST

Proteomic databases

MaxQBiO60443.
PaxDbiO60443.
PRIDEiO60443.

PTM databases

PhosphoSiteiO60443.

Expressioni

Tissue specificityi

Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta.

Gene expression databases

BgeeiO60443.
CleanExiHS_DFNA5.
ExpressionAtlasiO60443. baseline and differential.
GenevestigatoriO60443.

Organism-specific databases

HPAiCAB019306.
HPA011326.

Interactioni

Protein-protein interaction databases

BioGridi108049. 5 interactions.
IntActiO60443. 4 interactions.
MINTiMINT-5005878.
STRINGi9606.ENSP00000339587.

Structurei

3D structure databases

ProteinModelPortaliO60443.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the gasdermin family.Curated

Phylogenomic databases

eggNOGiNOG40145.
GeneTreeiENSGT00530000063574.
HOGENOMiHOG000065726.
HOVERGENiHBG051340.
InParanoidiO60443.
OMAiVVVESDF.
OrthoDBiEOG7N63MV.
PhylomeDBiO60443.
TreeFamiTF352821.

Family and domain databases

InterProiIPR007677. Gasdermin.
[Graphical view]
PfamiPF04598. Gasdermin. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O60443-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MFAKATRNFL REVDADGDLI AVSNLNDSDK LQLLSLVTKK KRFWCWQRPK
60 70 80 90 100
YQFLSLTLGD VLIEDQFPSP VVVESDFVKY EGKFANHVSG TLETALGKVK
110 120 130 140 150
LNLGGSSRVE SQSSFGTLRK QEVDLQQLIR DSAERTINLR NPVLQQVLEG
160 170 180 190 200
RNEVLCVLTQ KITTMQKCVI SEHMQVEEKC GGIVGIQTKT VQVSATEDGN
210 220 230 240 250
VTKDSNVVLE IPAATTIAYG VIELYVKLDG QFEFCLLRGK QGGFENKKRI
260 270 280 290 300
DSVYLDPLVF REFAFIDMPD AAHGISSQDG PLSVLKQATL LLERNFHPFA
310 320 330 340 350
ELPEPQQTAL SDIFQAVLFD DELLMVLEPV CDDLVSGLSP TVAVLGELKP
360 370 380 390 400
RQQQDLVAFL QLVGCSLQGG CPGPEDAGSK QLFMTAYFLV SALAEMPDSA
410 420 430 440 450
AALLGTCCKL QIIPTLCHLL RALSDDGVSD LEDPTLTPLK DTERFGIVQR
460 470 480 490
LFASADISLE RLKSSVKAVI LKDSKVFPLL LCITLNGLCA LGREHS
Length:496
Mass (Da):54,555
Last modified:August 1, 1999 - v2
Checksum:iA407C9AC31AA716B
GO
Isoform 2 (identifier: O60443-2) [UniParc]FASTAAdd to Basket

Also known as: Short

The sequence of this isoform differs from the canonical sequence as follows:
     1-395: Missing.

Note: No experimental confirmation available.

Show »
Length:101
Mass (Da):10,906
Checksum:i31462F171F9DB7B8
GO
Isoform 3 (identifier: O60443-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-164: Missing.

Show »
Length:332
Mass (Da):36,043
Checksum:i5F4C0AD8EE2734F6
GO

Sequence cautioni

The sequence AAC39635.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence AAB83938.1 differs from that shown. Reason: Erroneous gene model prediction.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti142 – 1421P → T.1 Publication
Corresponds to variant rs754554 [ dbSNP | Ensembl ].
VAR_030824
Natural varianti174 – 1741M → T.
Corresponds to variant rs876306 [ dbSNP | Ensembl ].
VAR_053102
Natural varianti207 – 2071V → M.
Corresponds to variant rs12540919 [ dbSNP | Ensembl ].
VAR_030825

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 395395Missing in isoform 2. 2 PublicationsVSP_004190Add
BLAST
Alternative sequencei1 – 164164Missing in isoform 3. 1 PublicationVSP_044276Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF073308 mRNA. Translation: AAC69324.1.
AF075171 mRNA. Translation: AAC69326.1.
AF131765 mRNA. Translation: AAD20039.1.
AK094714 mRNA. Translation: BAG52917.1.
AK314402 mRNA. Translation: BAG37026.1.
AC003093 Genomic DNA. Translation: AAB83938.1. Sequence problems.
CH236948 Genomic DNA. Translation: EAL24246.1.
CH471073 Genomic DNA. Translation: EAW93813.1.
BC125065 mRNA. Translation: AAI25066.1.
AF007790 mRNA. Translation: AAC39635.2. Different initiation.
CCDSiCCDS47563.1. [O60443-3]
CCDS5389.1. [O60443-1]
RefSeqiNP_001120925.1. NM_001127453.1. [O60443-1]
NP_001120926.1. NM_001127454.1. [O60443-3]
NP_004394.1. NM_004403.2. [O60443-1]
UniGeneiHs.520708.

Genome annotation databases

EnsembliENST00000342947; ENSP00000339587; ENSG00000105928. [O60443-1]
ENST00000409775; ENSP00000386670; ENSG00000105928. [O60443-1]
ENST00000409970; ENSP00000387119; ENSG00000105928. [O60443-3]
ENST00000419307; ENSP00000401332; ENSG00000105928. [O60443-3]
GeneIDi1687.
KEGGihsa:1687.
UCSCiuc003sxa.1. human. [O60443-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF073308 mRNA. Translation: AAC69324.1 .
AF075171 mRNA. Translation: AAC69326.1 .
AF131765 mRNA. Translation: AAD20039.1 .
AK094714 mRNA. Translation: BAG52917.1 .
AK314402 mRNA. Translation: BAG37026.1 .
AC003093 Genomic DNA. Translation: AAB83938.1 . Sequence problems.
CH236948 Genomic DNA. Translation: EAL24246.1 .
CH471073 Genomic DNA. Translation: EAW93813.1 .
BC125065 mRNA. Translation: AAI25066.1 .
AF007790 mRNA. Translation: AAC39635.2 . Different initiation.
CCDSi CCDS47563.1. [O60443-3 ]
CCDS5389.1. [O60443-1 ]
RefSeqi NP_001120925.1. NM_001127453.1. [O60443-1 ]
NP_001120926.1. NM_001127454.1. [O60443-3 ]
NP_004394.1. NM_004403.2. [O60443-1 ]
UniGenei Hs.520708.

3D structure databases

ProteinModelPortali O60443.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108049. 5 interactions.
IntActi O60443. 4 interactions.
MINTi MINT-5005878.
STRINGi 9606.ENSP00000339587.

PTM databases

PhosphoSitei O60443.

Proteomic databases

MaxQBi O60443.
PaxDbi O60443.
PRIDEi O60443.

Protocols and materials databases

DNASUi 1687.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000342947 ; ENSP00000339587 ; ENSG00000105928 . [O60443-1 ]
ENST00000409775 ; ENSP00000386670 ; ENSG00000105928 . [O60443-1 ]
ENST00000409970 ; ENSP00000387119 ; ENSG00000105928 . [O60443-3 ]
ENST00000419307 ; ENSP00000401332 ; ENSG00000105928 . [O60443-3 ]
GeneIDi 1687.
KEGGi hsa:1687.
UCSCi uc003sxa.1. human. [O60443-1 ]

Organism-specific databases

CTDi 1687.
GeneCardsi GC07M024737.
GeneReviewsi DFNA5.
HGNCi HGNC:2810. DFNA5.
HPAi CAB019306.
HPA011326.
MIMi 600994. phenotype.
608798. gene.
neXtProti NX_O60443.
Orphaneti 90635. Autosomal dominant non-syndromic sensorineural deafness type DFNA.
PharmGKBi PA27281.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40145.
GeneTreei ENSGT00530000063574.
HOGENOMi HOG000065726.
HOVERGENi HBG051340.
InParanoidi O60443.
OMAi VVVESDF.
OrthoDBi EOG7N63MV.
PhylomeDBi O60443.
TreeFami TF352821.

Miscellaneous databases

ChiTaRSi DFNA5. human.
GeneWikii DFNA5.
GenomeRNAii 1687.
NextBioi 6920.
PROi O60443.
SOURCEi Search...

Gene expression databases

Bgeei O60443.
CleanExi HS_DFNA5.
ExpressionAtlasi O60443. baseline and differential.
Genevestigatori O60443.

Family and domain databases

InterProi IPR007677. Gasdermin.
[Graphical view ]
Pfami PF04598. Gasdermin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INVOLVEMENT IN DFNA5.
    Tissue: Cochlea.
  2. Van Laer L., Van Camp G.
    Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  3. Mei G., Yu W., Gibbs R.A.
    Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Brain.
  4. "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 1 AND 3).
    Tissue: Amygdala.
  5. "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].
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. "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 THR-142.
  8. "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).
  9. "Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas."
    Thompson D.A., Weigel R.J.
    Eur. J. Biochem. 252:169-177(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-496 (ISOFORM 1).
    Tissue: Mammary gland.
  10. Thompson D.A.
    Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: SEQUENCE REVISION TO C-TERMINUS.
  11. "The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage."
    Masuda Y., Futamura M., Kamino H., Nakamura Y., Kitamura N., Ohnishi S., Miyamoto Y., Ichikawa H., Ohta T., Ohki M., Kiyono T., Egami H., Baba H., Arakawa H.
    J. Hum. Genet. 51:652-664(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN TP53-MEDIATED CELLULAR RESPONSE.
  12. "Aberrant promoter methylation and tumor suppressive activity of the DFNA5 gene in colorectal carcinoma."
    Kim M.S., Chang X., Yamashita K., Nagpal J.K., Baek J.H., Wu G., Trink B., Ratovitski E.A., Mori M., Sidransky D.
    Oncogene 27:3624-3634(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN COLORECTAL CARCINOMA.
  13. "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  14. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  15. "The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein."
    Op de Beeck K., Van Camp G., Thys S., Cools N., Callebaut I., Vrijens K., Van Nassauw L., Van Tendeloo V.F., Timmermans J.P., Van Laer L.
    Eur. J. Hum. Genet. 19:965-973(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN APOPTOSIS.
  16. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiDFNA5_HUMAN
AccessioniPrimary (citable) accession number: O60443
Secondary accession number(s): A4D156
, B2RAX9, B3KT05, O14590, Q08AQ8, Q9UBV3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: August 1, 1999
Last modified: October 29, 2014
This is version 109 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 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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3