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Q8N490 (PNKD_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 70. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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:
Probable hydrolase PNKD

EC=3.-.-.-
Alternative name(s):
Myofibrillogenesis regulator 1
Short name=MR-1
Paroxysmal nonkinesiogenic dyskinesia protein
Trans-activated by hepatitis C virus core protein 2
Gene names
Name:PNKD
Synonyms:KIAA1184, MR1, TAHCCP2
ORF Names:FKSG19, UNQ2491/PRO5778
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length385 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway By similarity.

Subunit structure

Isoform 2 interacts with the sarcomeric proteins, MRLC2, MYOM1 and ENO3. Ref.1

Subcellular location

Isoform 1: Membrane; Peripheral membrane protein.

Isoform 2: Cytoplasm. Nucleus.

Isoform 3: Mitochondrion.

Tissue specificity

Isoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest expression in skeletal muscle and detected in myocardial myofibrils. Variant Val-7 and Val-9 are detected in the brain only. Ref.1 Ref.14 Ref.15

Induction

By Hepatitis C virus core protein. Ref.2

Post-translational modification

Isoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR. Ref.12

Involvement in disease

Defects in PNKD are the cause of dystonia type 8 (DYT8) [MIM:118800]. DYT8 is a paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face. Ref.11 Ref.14 Ref.16 Ref.17 Ref.18

Sequence similarities

Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.

Ontologies

Keywords
   Cellular componentCytoplasm
Membrane
Mitochondrion
Nucleus
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
Dystonia
   LigandMetal-binding
Zinc
   Molecular functionHydrolase
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular componentmembrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

mitochondrion

Inferred from direct assay. Source: HPA

nucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionhydroxyacylglutathione hydrolase activity

Inferred from electronic annotation. Source: InterPro

zinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N490-1)

Also known as: MR-1L;

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: Q8N490-2)

Also known as: MR-1S;

The sequence of this isoform differs from the canonical sequence as follows:
     80-142: YSLYTRTWLG...YLIIDTQAQL → AIGFPCGILL...SPDVGSGVQT
     143-385: Missing.
Note: Phosphorylated on Ser-121.
Isoform 3 (identifier: Q8N490-3)

Also known as: MR-1M;

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: MAAVVAATAL...NPMKAVGLAW → MAWQGWPAAW...HSQRLLFRIG
Isoform 4 (identifier: Q8N490-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: Missing.
     61-78: EYIPRKRGKNPMKAVGLA → MPSSVHHTKRQMMSIYCY
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 385385Probable hydrolase PNKD
PRO_0000299549

Regions

Region291 – 2933Substrate By similarity
Region376 – 3794Substrate By similarity

Sites

Metal binding1721Zinc 1 By similarity
Metal binding1741Zinc 1 By similarity
Metal binding1761Zinc 2 By similarity
Metal binding1771Zinc 2 By similarity
Metal binding2291Zinc 1 By similarity
Metal binding2531Zinc 1 By similarity
Metal binding2531Zinc 2 By similarity
Metal binding2911Zinc 2 By similarity

Natural variations

Alternative sequence1 – 7979MAAVV…VGLAW → MAWQGWPAAWQWVAGCWLLL VLVLVLLVSPRGCRARRGLR GLLMAHSQRLLFRIG in isoform 3.
VSP_027736
Alternative sequence1 – 6060Missing in isoform 4.
VSP_027737
Alternative sequence61 – 7818EYIPR…AVGLA → MPSSVHHTKRQMMSIYCY in isoform 4.
VSP_027738
Alternative sequence80 – 14263YSLYT…TQAQL → AIGFPCGILLFILTKREVDK DRVKQMKARQNMRLSNTGEY ESQRFRASSQSAPSPDVGSG VQT in isoform 2.
VSP_027739
Alternative sequence143 – 385243Missing in isoform 2.
VSP_027740
Natural variant71A → V in DYT8. Ref.14 Ref.16 Ref.18
VAR_034844
Natural variant91A → V in DYT8. Ref.14 Ref.16 Ref.17
VAR_034845

Experimental info

Sequence conflict121G → S in AAH36457. Ref.9
Sequence conflict331A → V in AAH36457. Ref.9
Sequence conflict471P → S in AAH36457. Ref.9
Sequence conflict3771R → L in CAB70870. Ref.7

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (MR-1L) [UniParc].

Last modified September 11, 2007. Version 2.
Checksum: A4D631D3A4319A2C

FASTA38542,876
        10         20         30         40         50         60 
MAAVVAATAL KGRGARNARV LRGILAGATA NKASHNRTRA LQSHSSPEGK EEPEPLSPEL 

        70         80         90        100        110        120 
EYIPRKRGKN PMKAVGLAWY SLYTRTWLGY LFYRQQLRRA RNRYPKGHSK TQPRLFNGVK 

       130        140        150        160        170        180 
VLPIPVLSDN YSYLIIDTQA QLAVAVDPSD PRAVQASIEK EGVTLVAILC THKHWDHSGG 

       190        200        210        220        230        240 
NRDLSRRHRD CRVYGSPQDG IPYLTHPLCH QDVVSVGRLQ IRALATPGHT QGHLVYLLDG 

       250        260        270        280        290        300 
EPYKGPSCLF SGDLLFLSGC GRTFEGNAET MLSSLDTVLG LGDDTLLWPG HEYAEENLGF 

       310        320        330        340        350        360 
AGVVEPENLA RERKMQWVQR QRLERKGTCP STLGEERSYN PFLRTHCLAL QEALGPGPGP 

       370        380 
TGDDDYSRAQ LLEELRRLKD MHKSK 

« Hide

Isoform 2 (MR-1S) [UniParc].

Checksum: 21108BA446DB0BE2
Show »

FASTA14215,397
Isoform 3 (MR-1M) [UniParc].

Checksum: C615B7DE31B9E4F6
Show »

FASTA36140,747
Isoform 4 [UniParc].

Checksum: 40A100CAB88A9067
Show »

FASTA32536,849

References

« Hide 'large scale' references
[1]"Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle."
Li T.-B., Liu X.-H., Feng S., Hu Y., Yang W.-X., Han Y., Wang Y.-G., Gong L.-M.
Acta Biochim. Biophys. Sin. 36:412-418(2004) [PubMed: 15188056] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, INTERACTION WITH MRLC2; MYOM1 AND ENO3.
[2]"Transactivating effect of hepatitis C virus core protein: a suppression subtractive hybridization study."
Liu M., Liu Y., Cheng J., Zhang S.-L., Wang L., Shao Q., Zhang J., Yang Q.
World J. Gastroenterol. 10:1746-1749(2004) [PubMed: 15188498] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INDUCTION.
[3]"Cloning of FKSG19, a novel gene expressed in ovarian tumour tissue."
Wang Y.-G., Gong L.
Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[4]"Identification of human genomic DNA structure of the gene trans-activated by hepatitis C virus core protein 2."
Liu Y., Cheng J., Wang G., Li K., Dong J., Li L., Chen J., Zhang L.
Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2).
[5]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed: 12975309] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[6]"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: 14702039] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Caudate nucleus.
[7]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
Tissue: Brain.
[8]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].
[9]"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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3).
Tissue: Brain.
[10]"Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain."
Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O.
DNA Res. 6:329-336(1999) [PubMed: 10574461] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 6-385 (ISOFORM 1).
Tissue: Brain.
[11]"Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia."
Spacey S.D., Adams P.J., Lam P.C., Materek L.A., Stoessl A.J., Snutch T.P., Hsiung G.Y.
Neurology 66:1588-1590(2006) [PubMed: 16717228] [Abstract]
Cited for: INVOLVEMENT IN DYT8.
[12]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-121 (ISOFORM 2), MASS SPECTROMETRY.
Tissue: Embryonic kidney.
[13]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]"Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis."
Rainier S., Thomas D., Tokarz D., Ming L., Bui M., Plein E., Zhao X., Lemons R., Albin R., Delaney C., Alvarado D., Fink J.K.
Arch. Neurol. 61:1025-1029(2004) [PubMed: 15262732] [Abstract]
Cited for: VARIANTS DYT8 VAL-7 AND VAL-9, TISSUE SPECIFICITY.
[15]"The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway."
Lee H.-Y., Xu Y., Huang Y., Ahn A.H., Auburger G.W., Pandolfo M., Kwiecinski H., Grimes D.A., Lang A.E., Nielsen J.E., Averyanov Y., Servidei S., Friedman A., Van Bogaert P., Abramowicz M.J., Bruno M.K., Sorensen B.F., Tang L., Fu Y.-H., Ptacek L.J.
Hum. Mol. Genet. 13:3161-3170(2004) [PubMed: 15496428] [Abstract]
Cited for: TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
[16]"Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds."
Chen D.-H., Matsushita M., Rainier S., Meaney B., Tisch L., Feleke A., Wolff J., Lipe H., Fink J., Bird T.D., Raskind W.H.
Arch. Neurol. 62:597-600(2005) [PubMed: 15824259] [Abstract]
Cited for: VARIANTS DYT8 VAL-7 AND VAL-9.
[17]"Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation."
Stefanova E., Djarmati A., Momcilovic D., Dragasevic N., Svetel M., Klein C., Kostic V.S.
Mov. Disord. 21:2010-2015(2006) [PubMed: 16972263] [Abstract]
Cited for: VARIANT DYT8 VAL-9.
[18]"Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia."
Hempelmann A., Kumar S., Muralitharan S., Sander T.
Neurosci. Lett. 402:118-120(2006) [PubMed: 16632198] [Abstract]
Cited for: VARIANT DYT8 VAL-7.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF417001 mRNA. Translation: AAL08573.1.
AY039043 mRNA. Translation: AAK83449.1.
AF318057 mRNA. Translation: AAL25716.1.
AF390031 Genomic DNA. Translation: AAM73649.1.
AY358753 mRNA. Translation: AAQ89113.1.
AK289867 mRNA. Translation: BAF82556.1.
AL080092 mRNA. Translation: CAB45707.2.
AL137675 mRNA. Translation: CAB70870.2.
CH471063 Genomic DNA. Translation: EAW70602.1.
CH471063 Genomic DNA. Translation: EAW70604.1.
BC002937 mRNA. Translation: AAH02937.1.
BC021118 mRNA. Translation: AAH21118.1.
BC036457 mRNA. Translation: AAH36457.1.
AB033010 mRNA. Translation: BAA86498.1.
IPIIPI00001022.
IPI00030458.
IPI00328714.
IPI00855925.
PIRT46495.
RefSeqNP_001070867.1. NM_001077399.2.
NP_056303.3. NM_015488.4.
NP_072094.1. NM_022572.4.
UniGeneHs.98475.

3D structure databases

HSSPHSSP built from PDB template 1QH5 based on UniProtKB Q16775.
ProteinModelPortalQ8N490.
SMRQ8N490. Positions 119-384.
ModBaseSearch...

Protein-protein interaction databases

IntActQ8N490. 1 interaction.
MINTMINT-1453480.
STRINGQ8N490.

PTM databases

PhosphoSiteQ8N490.

Polymorphism databases

DMDM158563846.

Proteomic databases

PRIDEQ8N490.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000273077; ENSP00000273077; ENSG00000127838.
GeneID25953.
KEGGhsa:25953.
UCSCuc002vhm.1. human.
uc002vhn.1. human.
uc002vhq.1. human.

Organism-specific databases

CTD25953.
GeneCardsGC02P219135.
HGNCHGNC:9153. PNKD.
HPAHPA010134.
HPA017068.
MIM118800. phenotype.
609023. gene.
neXtProtNX_Q8N490.
Orphanet98810. Paroxysmal non-kinesigenic dyskinesia.
PharmGKBPA33476.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

GeneTreeENSGT00530000063033.
HOGENOMHBG753931.
HOVERGENHBG001152.
InParanoidQ8N490.
OMAHQDCRVY.
OrthoDBEOG412M5W.
PhylomeDBQ8N490.

Gene expression databases

ArrayExpressQ8N490.
BgeeQ8N490.
CleanExHS_MR1.
HS_PNKD.
GenevestigatorQ8N490.

Family and domain databases

InterProIPR001279. Beta-lactamas-like.
IPR017782. Hydroxyacylglutathione_Hdrlase.
[Graphical view]
PANTHERPTHR11935:SF7. PTHR11935:SF7. 1 hit.
PfamPF00753. Lactamase_B. 1 hit.
[Graphical view]
SMARTSM00849. Lactamase_B. 1 hit.
[Graphical view]
TIGRFAMsTIGR03413. GSH_gloB. 1 hit.
ProtoNetSearch...

Other

NextBio47556.
SOURCESearch...

Entry information

Entry namePNKD_HUMAN
AccessionPrimary (citable) accession number: Q8N490
Secondary accession number(s): A8K1F2 expand/collapse secondary AC list , Q96A48, Q9BU26, Q9NSX4, Q9ULN6, Q9Y4T1
Entry history
Integrated into UniProtKB/Swiss-Prot: September 11, 2007
Last sequence update: September 11, 2007
Last modified: January 25, 2012
This is version 70 of the entry and version 2 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

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families