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P35523 (CLCN1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 142. 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·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Chloride channel protein 1

Short name=ClC-1
Alternative name(s):
Chloride channel protein, skeletal muscle
Gene names
Name:CLCN1
Synonyms:CLC1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length988 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Voltage-gated chloride channel. Chloride channels have several functions including the regulation of cell volume; membrane potential stabilization, signal transduction and transepithelial transport.

Subunit structure

Homotetramer Probable.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Predominantly expressed in skeletal muscles.

Involvement in disease

Myotonia congenita, autosomal dominant (MCD) [MIM:160800]: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal dominant form (Thomsen disease) is less common and less severe than the autosomal recessive one (Becker disease). A milder form of autosomal dominant myotonia is characterized by isolated myotonia without muscle weakness, hypotrophy, or hypertrophy (myotonia levior).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.5 Ref.9 Ref.10 Ref.12 Ref.14

Myotonia congenita, autosomal recessive (MCR) [MIM:255700]: A non-dystrophic skeletal muscle disorder characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction. Most patients have symptom onset in the legs, which later progresses to the arms, neck, and facial muscles. Many patients show marked hypertrophy of the lower limb muscles. The autosomal recessive form (Becker disease) is more severe than the autosomal dominant one (Thomsen disease).
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4 Ref.6 Ref.7 Ref.8 Ref.9 Ref.11 Ref.13

Miscellaneous

The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The absence of conserved gating glutamate residues is typical for family members that function as channels.

Sequence similarities

Belongs to the chloride channel (TC 2.A.49) family. ClC-1/CLCN1 subfamily. [View classification]

Contains 2 CBS domains.

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentMembrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
   DomainCBS domain
Repeat
Transmembrane
Transmembrane helix
   LigandChloride
   Molecular functionChloride channel
Ion channel
Voltage-gated channel
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processchloride transmembrane transport

Traceable author statement Ref.4. Source: GOC

ion transmembrane transport

Traceable author statement. Source: Reactome

muscle contraction

Traceable author statement Ref.4. Source: ProtInc

neuronal action potential propagation

Inferred from electronic annotation. Source: Ensembl

regulation of anion transport

Traceable author statement PubMed 9122265. Source: GOC

transmembrane transport

Traceable author statement. Source: Reactome

transport

Traceable author statement PubMed 9122265. Source: ProtInc

   Cellular_componentchloride channel complex

Inferred from electronic annotation. Source: UniProtKB-KW

integral component of plasma membrane

Traceable author statement PubMed 9122265. Source: ProtInc

plasma membrane

Traceable author statement. Source: Reactome

sarcolemma

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionadenyl nucleotide binding

Inferred from electronic annotation. Source: InterPro

chloride channel activity

Traceable author statement Ref.4. Source: ProtInc

voltage-gated chloride channel activity

Traceable author statement PubMed 9122265. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 988988Chloride channel protein 1
PRO_0000094429

Regions

Topological domain1 – 114114Cytoplasmic By similarity
Transmembrane115 – 15238Helical; By similarity
Transmembrane159 – 18224Helical; By similarity
Intramembrane191 – 1988Helical; By similarity
Transmembrane207 – 22519Helical; By similarity
Transmembrane232 – 25019Helical; By similarity
Intramembrane266 – 27813Helical; By similarity
Intramembrane282 – 2909Helical; By similarity
Transmembrane302 – 32120Helical; By similarity
Transmembrane348 – 37629Helical; By similarity
Transmembrane385 – 40420Helical; By similarity
Transmembrane454 – 47421Helical; By similarity
Transmembrane482 – 50524Helical; By similarity
Intramembrane522 – 53615Helical; By similarity
Intramembrane537 – 5382Note=Loop between two helices; By similarity
Intramembrane539 – 55012Helical; By similarity
Intramembrane551 – 5555Note=Loop between two helices; By similarity
Transmembrane556 – 57318Helical; By similarity
Topological domain574 – 988415Cytoplasmic By similarity
Domain609 – 66860CBS 1
Domain821 – 87656CBS 2
Motif188 – 1925Selectivity filter part_1 By similarity
Motif230 – 2345Selectivity filter part_2 By similarity
Motif482 – 4865Selectivity filter part_3 By similarity

Sites

Binding site1891Chloride By similarity
Binding site4841Chloride; via amide nitrogen By similarity
Binding site5781Chloride By similarity

Natural variations

Natural variant1051R → C in MCR.
Corresponds to variant rs201509501 [ dbSNP | Ensembl ].
VAR_001582
Natural variant1181G → W. Ref.1 Ref.3 Ref.10
Corresponds to variant rs10282312 [ dbSNP | Ensembl ].
VAR_001583
Natural variant1361D → G in MCR. Ref.7
VAR_001584
Natural variant1501Y → C in MCR. Ref.11
VAR_001585
Natural variant1611F → V in MCD and MCR. Ref.14
VAR_001586
Natural variant1651V → G in MCR.
VAR_001587
Natural variant1671F → L in MCR. Ref.8
Corresponds to variant rs149729531 [ dbSNP | Ensembl ].
VAR_001588
Natural variant2001G → R in MCD and MCR. Ref.11
VAR_001589
Natural variant2301G → E in MCD and MCR. Ref.5
VAR_001590
Natural variant2361V → L in MCR. Ref.12
VAR_001591
Natural variant2611Y → C in MCR. Ref.11
Corresponds to variant rs200621976 [ dbSNP | Ensembl ].
VAR_001592
Natural variant2851G → E in MCR. Ref.12
VAR_001593
Natural variant2861V → A in MCD. Ref.12
VAR_001594
Natural variant2901I → M in MCD. Ref.10
VAR_001595
Natural variant2911E → K in MCR.
VAR_001596
Natural variant3001R → Q. Ref.8
Corresponds to variant rs118066140 [ dbSNP | Ensembl ].
VAR_001597
Natural variant3071F → S in MCD. Ref.12
VAR_001598
Natural variant3131A → T in MCD and MCR. Ref.14
VAR_001599
Natural variant3171R → Q in MCD.
VAR_001600
Natural variant3271V → I in MCR.
VAR_001601
Natural variant3291I → T in MCR.
VAR_001602
Natural variant3381R → Q in MCD and MCR. Ref.8
VAR_001603
Natural variant4131F → C in MCR. Ref.4
VAR_001604
Natural variant4151A → V in MCR. Ref.11
VAR_001605
Natural variant4371A → T.
Corresponds to variant rs41276054 [ dbSNP | Ensembl ].
VAR_001606
Natural variant4801P → L in MCD. Ref.1
VAR_001607
Natural variant4821G → R in MCR.
VAR_001608
Natural variant4851M → V in MCR. Ref.12
Corresponds to variant rs146457619 [ dbSNP | Ensembl ].
VAR_001609
Natural variant4961R → S in MCR. Ref.6
VAR_001610
Natural variant5481E → K in a breast cancer sample; somatic mutation. Ref.15
VAR_036300
Natural variant5521Q → R in MCD, MCR and in myotonia levior. Ref.10
VAR_001611
Natural variant5561I → N in MCD and MCR; mild form. Ref.12 Ref.14
VAR_001612
Natural variant5631V → I in MCR. Ref.13
VAR_001613
Natural variant7081F → L in MCR. Ref.13
VAR_001614
Natural variant7271P → L.
Corresponds to variant rs13438232 [ dbSNP | Ensembl ].
VAR_047779

Experimental info

Sequence conflict6971L → P in CAA80996. Ref.1
Sequence conflict6971L → P in CAA81103. Ref.1

Sequences

Sequence LengthMass (Da)Tools
P35523 [UniParc].

Last modified November 2, 2010. Version 3.
Checksum: CA838BCD2AF3CA68

FASTA988108,626
        10         20         30         40         50         60 
MEQSRSQQRG GEQSWWGSDP QYQYMPFEHC TSYGLPSENG GLQHRLRKDA GPRHNVHPTQ 

        70         80         90        100        110        120 
IYGHHKEQFS DREQDIGMPK KTGSSSTVDS KDEDHYSKCQ DCIHRLGQVV RRKLGEDGIF 

       130        140        150        160        170        180 
LVLLGLLMAL VSWSMDYVSA KSLQAYKWSY AQMQPSLPLQ FLVWVTFPLV LILFSALFCH 

       190        200        210        220        230        240 
LISPQAVGSG IPEMKTILRG VVLKEYLTMK AFVAKVVALT AGLGSGIPVG KEGPFVHIAS 

       250        260        270        280        290        300 
ICAAVLSKFM SVFCGVYEQP YYYSDILTVG CAVGVGCCFG TPLGGVLFSI EVTSTYFAVR 

       310        320        330        340        350        360 
NYWRGFFAAT FSAFVFRVLA VWNKDAVTIT ALFRTNFRMD FPFDLKELPA FAAIGICCGL 

       370        380        390        400        410        420 
LGAVFVYLHR QVMLGVRKHK ALSQFLAKHR LLYPGIVTFV IASFTFPPGM GQFMAGELMP 

       430        440        450        460        470        480 
REAISTLFDN NTWVKHAGDP ESLGQSAVWI HPRVNVVIII FLFFVMKFWM SIVATTMPIP 

       490        500        510        520        530        540 
CGGFMPVFVL GAAFGRLVGE IMAMLFPDGI LFDDIIYKIL PGGYAVIGAA ALTGAVSHTV 

       550        560        570        580        590        600 
STAVICFELT GQIAHILPMM VAVILANMVA QSLQPSLYDS IIQVKKLPYL PDLGWNQLSK 

       610        620        630        640        650        660 
YTIFVEDIMV RDVKFVSASY TYGELRTLLQ TTTVKTLPLV DSKDSMILLG SVERSELQAL 

       670        680        690        700        710        720 
LQRHLCPERR LRAAQEMARK LSELPYDGKA RLAGEGLPGA PPGRPESFAF VDEDEDEDLS 

       730        740        750        760        770        780 
GKSELPPSLA LHPSTTAPLS PEEPNGPLPG HKQQPEAPEP AGQRPSIFQS LLHCLLGRAR 

       790        800        810        820        830        840 
PTKKKTTQDS TDLVDNMSPE EIEAWEQEQL SQPVCFDSCC IDQSPFQLVE QTTLHKTHTL 

       850        860        870        880        890        900 
FSLLGLHLAY VTSMGKLRGV LALEELQKAI EGHTKSGVQL RPPLASFRNT TSTRKSTGAP 

       910        920        930        940        950        960 
PSSAENWNLP EDRPGATGTG DVIAASPETP VPSPSPEPPL SLAPGKVEGE LEELELVESP 

       970        980 
GLEEELADIL QGPSLRSTDE EDEDELIL 

« Hide

References

« Hide 'large scale' references
[1]"Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)."
Steinmeyer K., Lorenz C., Pusch M., Koch M.C., Jentsch T.J.
EMBO J. 13:737-743(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT MCD LEU-480, VARIANT TRP-118.
[2]"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. expand/collapse author list , 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].
[3]"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], VARIANT TRP-118.
[4]"The skeletal muscle chloride channel in dominant and recessive human myotonia."
Koch M.C., Steinmeyer K., Lorenz C., Ricker K., Wolf F., Otto M., Zoll B., Lehmann-Horn F., Grzeschik K.-H., Jentsch T.J.
Science 257:797-800(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 171-988, VARIANT MCR CYS-413.
[5]"Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita)."
George A.L. Jr., Crackower M.A., Abdalla J.A., Hudson A.J., Ebers G.C.
Nat. Genet. 3:305-310(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT MCD GLU-230.
[6]"Genomic organization of the human muscle chloride channel ClC-1 and analysis of novel mutations leading to Becker-type myotonia."
Lorenz C., Meyer-Kleine C., Steinmeyer K., Koch M.C., Jentsch T.J.
Hum. Mol. Genet. 3:941-946(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MCR SER-496.
[7]"Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion."
Heine R., George A.L. Jr., Pika U., Deymeer F., Ruedel R., Lehmann-Horn F.
Hum. Mol. Genet. 3:1123-1128(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MCR GLY-136.
[8]"Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita."
George A.L. Jr., Sloan-Brown K., Fenichel G.M., Mitchell G.A., Spiegel R., Pascuzzi R.M.
Hum. Mol. Genet. 3:2071-2072(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MCR LEU-167 AND GLN-338, VARIANT GLN-300.
[9]"Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia."
Meyer-Kleine C., Steinmeyer K., Ricker K., Jentsch T.J., Koch M.C.
Am. J. Hum. Genet. 57:1325-1334(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MCR AND MCD.
[10]"Myotonia levior is a chloride channel disorder."
Lehmann-Horn F., Mailaender V., Heine R., George A.L. Jr.
Hum. Mol. Genet. 4:1397-1402(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MCD MET-290, VARIANT MYOTONIA LEVIOR ARG-552, VARIANT TRP-118.
[11]"Novel muscle chloride channel mutations and their effects on heterozygous carriers."
Mailaender V., Heine R., Deymeer F., Lehmann-Horn F.
Am. J. Hum. Genet. 58:317-324(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MCR CYS-150; ARG-200; CYS-261 AND VAL-415.
[12]"ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence."
Kubisch C., Schmidt-Rose T., Fontaine B., Bretag A.H., Jentsch T.J.
Hum. Mol. Genet. 7:1753-1760(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MCD/MCR LEU-236; GLU-285; ALA-286; SER-307; VAL-485 AND ASN-556.
[13]"Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita."
Sangiuolo F., Botta A., Mesoraca A., Servidei S., Merlini L., Fratta G., Novelli G., Dallapiccola B.
Hum. Mutat. 11:331-331(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MCR ILE-563 AND LEU-708.
[14]"Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance."
Plassart-Schiess E., Gervais A., Eymard B., Lagueny A., Pouget J., Warter J.-M., Fardeau M., Jentsch T.J., Fontaine B.
Neurology 50:1176-1179(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MCD/MCR VAL-161; THR-313 AND ASN-556.
[15]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] LYS-548.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
Z25587 Genomic DNA. Translation: CAA80996.1.
Z25884 mRNA. Translation: CAA81103.1.
CH236959 Genomic DNA. Translation: EAL23786.1.
BC112156 mRNA. Translation: AAI12157.1.
BC113495 mRNA. Translation: AAI13496.1.
M97820 mRNA. No translation available.
L08261 Genomic DNA. No translation available.
L08262 Genomic DNA. No translation available.
L08263 Genomic DNA. No translation available.
L08264 Genomic DNA. No translation available.
L08265 Genomic DNA. No translation available.
Z25753 expand/collapse EMBL AC list , Z25754, Z25755, Z25756, Z25757, Z25758, Z25759, Z25760, Z25761, Z25762, Z25763, Z25764, Z25765, Z25766, Z25767, Z25752 Genomic DNA. Translation: CAB56792.1.
Z25768, Z25872 Genomic DNA. Translation: CAB56814.1.
CCDSCCDS5881.1.
PIRS37078.
RefSeqNP_000074.2. NM_000083.2.
UniGeneHs.121483.

3D structure databases

ProteinModelPortalP35523.
SMRP35523. Positions 120-670, 797-872.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000339867.

Chemistry

GuidetoPHARMACOLOGY698.

Protein family/group databases

TCDB2.A.49.2.1. the chloride carrier/channel (clc) family.

PTM databases

PhosphoSiteP35523.

Polymorphism databases

DMDM311033468.

Proteomic databases

PaxDbP35523.
PRIDEP35523.

Protocols and materials databases

DNASU1180.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000343257; ENSP00000339867; ENSG00000188037.
GeneID1180.
KEGGhsa:1180.
UCSCuc003wcr.1. human.

Organism-specific databases

CTD1180.
GeneCardsGC07P143013.
GeneReviewsCLCN1.
HGNCHGNC:2019. CLCN1.
MIM118425. gene.
160800. phenotype.
255700. phenotype.
neXtProtNX_P35523.
Orphanet614. Thomsen and Becker disease.
PharmGKBPA26546.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0038.
HOGENOMHOG000231297.
HOVERGENHBG005332.
InParanoidP35523.
KOK05010.
OMAFTFPPGM.
OrthoDBEOG77WWCD.
PhylomeDBP35523.
TreeFamTF352264.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressP35523.
BgeeP35523.
CleanExHS_CLCN1.
GenevestigatorP35523.

Family and domain databases

Gene3D1.10.3080.10. 1 hit.
InterProIPR000644. CBS_dom.
IPR014743. Cl-channel_core.
IPR001807. Cl-channel_volt-gated.
IPR002243. Cl_channel-1.
[Graphical view]
PfamPF00571. CBS. 1 hit.
PF00654. Voltage_CLC. 1 hit.
[Graphical view]
PRINTSPR00762. CLCHANNEL.
PR01112. CLCHANNEL1.
SUPFAMSSF81340. SSF81340. 1 hit.
PROSITEPS51371. CBS. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCLCN1.
GenomeRNAi1180.
NextBio4876.
PROP35523.
SOURCESearch...

Entry information

Entry nameCLCN1_HUMAN
AccessionPrimary (citable) accession number: P35523
Secondary accession number(s): A4D2H5, Q2M202
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 2, 2010
Last modified: July 9, 2014
This is version 142 of the entry and version 3 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

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 7

Human chromosome 7: entries, gene names and cross-references to MIM