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Q9NWW5 (CLN6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Ceroid-lipofuscinosis neuronal protein 6

Short name=Protein CLN6
Gene names
Name:CLN6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length311 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Subunit structure

Interacts with CRMP2. Ref.8

Subcellular location

Endoplasmic reticulum membrane; Multi-pass membrane protein Ref.5.

Involvement in disease

Ceroid lipofuscinosis, neuronal, 6 (CLN6) [MIM:601780]: A form of neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. The lipopigment patterns observed most often in neuronal ceroid lipofuscinosis type 6 comprise mixed combinations of granular, curvilinear, and fingerprint profiles.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.20

Ceroid lipofuscinosis, neuronal, 4A (CLN4A) [MIM:204300]: An adult-onset neuronal ceroid lipofuscinosis. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material, and clinically by seizures, dementia, visual loss, and/or cerebral atrophy. CLN4A has no visual involvement and is characterized by progressive myoclonic epilepsy.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.19

Ontologies

Keywords
   Cellular componentEndoplasmic reticulum
Membrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Neurodegeneration
Neuronal ceroid lipofuscinosis
   DomainTransmembrane
Transmembrane helix
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcell death

Inferred from electronic annotation. Source: UniProtKB-KW

cellular macromolecule catabolic process

Inferred from electronic annotation. Source: Ensembl

cholesterol metabolic process

Inferred from mutant phenotype PubMed 16857350. Source: UniProtKB

ganglioside metabolic process

Inferred from mutant phenotype PubMed 16857350. Source: UniProtKB

glycosaminoglycan metabolic process

Inferred from mutant phenotype PubMed 16857350. Source: UniProtKB

locomotion involved in locomotory behavior

Inferred from electronic annotation. Source: Ensembl

lysosomal lumen acidification

Inferred from mutant phenotype PubMed 11722572. Source: UniProtKB

positive regulation of proteolysis

Inferred from mutant phenotype PubMed 15010453. Source: UniProtKB

protein catabolic process

Non-traceable author statement PubMed 10740217. Source: UniProtKB

visual perception

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentendoplasmic reticulum

Inferred from direct assay Ref.5. Source: UniProtKB

endoplasmic reticulum lumen

Inferred from direct assay PubMed 15010453. Source: UniProtKB

endoplasmic reticulum membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Non-traceable author statement Ref.15. Source: UniProtKB

intracellular membrane-bounded organelle

Inferred from direct assay. Source: HPA

nucleus

Inferred from direct assay. Source: HPA

   Molecular_functionprotein homodimerization activity

Inferred from direct assay PubMed 15010453. Source: UniProtKB

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 311311Ceroid-lipofuscinosis neuronal protein 6
PRO_0000089862

Regions

Transmembrane56 – 7621Helical; Potential
Transmembrane81 – 10121Helical; Potential
Transmembrane111 – 13121Helical; Potential
Transmembrane179 – 19921Helical; Potential
Transmembrane204 – 22421Helical; Potential
Transmembrane225 – 24521Helical; Potential
Transmembrane260 – 28021Helical; Potential

Amino acid modifications

Modified residue311Phosphoserine Ref.10 Ref.11 Ref.13

Natural variations

Natural variant61R → T in CLN4A. Ref.19
VAR_065834
Natural variant121A → T in CLN6. Ref.20
VAR_066904
Natural variant171G → S in CLN6. Ref.20
VAR_066905
Natural variant341A → T. Ref.19
VAR_065835
Natural variant471L → F in CLN4A. Ref.19
VAR_065836
Natural variant621R → H in CLN6. Ref.17
VAR_021549
Natural variant671L → P in CLN4A. Ref.19
VAR_065837
Natural variant721E → Q in CLN6. Ref.17
Corresponds to variant rs104894483 [ dbSNP | Ensembl ].
VAR_021550
Natural variant771N → K in CLN4A. Ref.19
VAR_065838
Natural variant901N → K in CLN6. Ref.20
VAR_066906
Natural variant1031R → Q in CLN4A. Ref.19
VAR_065839
Natural variant1041S → F in CLN6. Ref.20
VAR_066907
Natural variant1231G → D in CLN6. Ref.15
Corresponds to variant rs28939384 [ dbSNP | Ensembl ].
VAR_015683
Natural variant1491R → C in CLN6. Ref.20
VAR_066908
Natural variant1491R → H in CLN4A. Ref.19
VAR_065840
Natural variant1541Missing in CLN6. Ref.15
VAR_015684
Natural variant1591P → L in CLN6. Ref.18
VAR_058436
Natural variant1691L → P in CLN6. Ref.20
VAR_066909
Natural variant1711Missing in CLN6. Ref.14
VAR_015685
Natural variant1861F → S in CLN6. Ref.20
VAR_066910
Natural variant2211Y → C in CLN6. Ref.18
VAR_058437
Natural variant2211Y → S in CLN6. Ref.17
VAR_021551
Natural variant2341F → L in CLN6. Ref.2 Ref.20
VAR_066911
Natural variant2381F → T in CLN4A; requires 2 nucleotide substitutions. Ref.19
VAR_065841
Natural variant2411M → T in CLN6. Ref.17
VAR_021552
Natural variant2521R → H in CLN6. Ref.20
VAR_066912
Natural variant2591G → S in CLN6. Ref.20
VAR_066913
Natural variant2651Missing in CLN6. Ref.17 Ref.18
VAR_021553
Natural variant2971P → T in CLN6. Ref.20
VAR_066914
Natural variant2991P → L in CLN6. Ref.17
VAR_021554
Natural variant3001W → R in CLN6. Ref.16
VAR_015686
Natural variant3081S → T. Ref.19
Corresponds to variant rs143578698 [ dbSNP | Ensembl ].
VAR_065842

Experimental info

Sequence conflict2811W → R in BAB55226. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9NWW5 [UniParc].

Last modified October 1, 2000. Version 1.
Checksum: C718E6F2DC20CE0F

FASTA31135,919
        10         20         30         40         50         60 
MEATRRRQHL GATGGPGAQL GASFLQARHG SVSADEAART APFHLDLWFY FTLQNWVLDF 

        70         80         90        100        110        120 
GRPIAMLVFP LEWFPLNKPS VGDYFHMAYN VITPFLLLKL IERSPRTLPR SITYVSIIIF 

       130        140        150        160        170        180 
IMGASIHLVG DSVNHRLLFS GYQHHLSVRE NPIIKNLKPE TLIDSFELLY YYDEYLGHCM 

       190        200        210        220        230        240 
WYIPFFLILF MYFSGCFTAS KAESLIPGPA LLLVAPSGLY YWYLVTEGQI FILFIFTFFA 

       250        260        270        280        290        300 
MLALVLHQKR KRLFLDSNGL FLFSSFALTL LLVALWVAWL WNDPVLRKKY PGVIYVPEPW 

       310 
AFYTLHVSSR H 

« Hide

References

« Hide 'large scale' references
[1]"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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[2]"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT CLN6 LEU-234.
[3]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].
[4]"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].
Tissue: Lung and Urinary bladder.
[5]"CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein."
Mole S.E., Michaux G., Codlin S., Wheeler R.B., Sharp J.D., Cutler D.F.
Exp. Cell Res. 298:399-406(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[6]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[7]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"Protein product of CLN6 gene responsible for variant late-onset infantile neuronal ceroid lipofuscinosis interacts with CRMP-2."
Benedict J.W., Getty A.L., Wishart T.M., Gillingwater T.H., Pearce D.A.
J. Neurosci. Res. 87:2157-2166(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH CRMP2.
[9]"Large-scale proteomics analysis of the human kinome."
Oppermann F.S., Gnad F., Olsen J.V., Hornberger R., Greff Z., Keri G., Mann M., Daub H.
Mol. Cell. Proteomics 8:1751-1764(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-31, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[11]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-31, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"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] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-31, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[14]"Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse."
Gao H., Boustany R.-M.N., Espinola J.A., Cotman S.L., Srinidhi L., Antonellis K.A., Gillis T., Qin X., Liu S., Donahue L.R., Bronson R.T., Faust J.R., Stout D., Haines J.L., Lerner T.J., MacDonald M.E.
Am. J. Hum. Genet. 70:324-335(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CLN6 TYR-171 DEL.
[15]"The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein."
Wheeler R.B., Sharp J.D., Schultz R.A., Joslin J.M., Williams R.E., Mole S.E.
Am. J. Hum. Genet. 70:537-542(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CLN6 ASP-123 AND ILE-154 DEL.
[16]"Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis."
Teixeira C.A., Espinola J., Huo L., Kohlschutter J., Persaud Sawin D.A., Minassian B., Bessa C.J., Guimaraes A., Stephan D.A., Sa Miranda M.C., MacDonald M.E., Ribeiro M.G., Boustany R.-M.N.
Hum. Mutat. 21:502-508(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CLN6 ARG-300.
[17]"Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis."
Sharp J.D., Wheeler R.B., Parker K.A., Gardiner R.M., Williams R.E., Mole S.E.
Hum. Mutat. 22:35-42(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CLN6 HIS-62; GLN-72; SER-221; THR-241; SER-265 DEL AND LEU-299.
[18]"Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis."
Kousi M., Siintola E., Dvorakova L., Vlaskova H., Turnbull J., Topcu M., Yuksel D., Gokben S., Minassian B.A., Elleder M., Mole S.E., Lehesjoki A.-E.
Brain 132:810-819(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CLN6 LEU-159; CYS-221 AND SER-265 DEL.
[19]"Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6."
Arsov T., Smith K.R., Damiano J., Franceschetti S., Canafoglia L., Bromhead C.J., Andermann E., Vears D.F., Cossette P., Rajagopalan S., McDougall A., Sofia V., Farrell M., Aguglia U., Zini A., Meletti S., Morbin M., Mullen S. expand/collapse author list , Andermann F., Mole S.E., Bahlo M., Berkovic S.F.
Am. J. Hum. Genet. 88:566-573(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CLN4A THR-6; PHE-47; PRO-67; LYS-77; GLN-103; HIS-149 AND THR-238, VARIANTS THR-34 AND THR-308.
[20]"Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses."
Kousi M., Lehesjoki A.E., Mole S.E.
Hum. Mutat. 33:42-63(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS CLN6 THR-12; SER-17; LYS-90; PHE-104; CYS-149; PRO-169; SER-186; LEU-234; HIS-252; SER-259 AND THR-297.
+Additional computationally mapped references.

Web resources

NCL CLN6

Neural Ceroid Lipofuscinoses mutation db

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK000568 mRNA. Translation: BAA91260.1.
AK027604 mRNA. Translation: BAB55226.1.
AK291175 mRNA. Translation: BAF83864.1.
CR457244 mRNA. Translation: CAG33525.1.
CH471082 Genomic DNA. Translation: EAW77811.1.
BC010849 mRNA. Translation: AAH10849.1.
BC013130 mRNA. Translation: AAH13130.1.
RefSeqNP_060352.1. NM_017882.2.
UniGeneHs.584921.

3D structure databases

ProteinModelPortalQ9NWW5.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120318. 6 interactions.
IntActQ9NWW5. 3 interactions.
STRING9606.ENSP00000249806.

PTM databases

PhosphoSiteQ9NWW5.

Polymorphism databases

DMDM32129457.

Proteomic databases

PaxDbQ9NWW5.
PRIDEQ9NWW5.

Protocols and materials databases

DNASU54982.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000249806; ENSP00000249806; ENSG00000128973.
GeneID54982.
KEGGhsa:54982.
UCSCuc002arf.3. human.

Organism-specific databases

CTD54982.
GeneCardsGC15M068499.
HGNCHGNC:2077. CLN6.
HPAHPA043388.
MIM204300. phenotype.
601780. phenotype.
606725. gene.
neXtProtNX_Q9NWW5.
Orphanet228340. CLN4A disease.
228363. CLN6 disease.
PharmGKBPA26604.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG27962.
HOVERGENHBG039396.
InParanoidQ9NWW5.
KOK12359.
OrthoDBEOG70S764.
PhylomeDBQ9NWW5.
TreeFamTF333294.

Gene expression databases

ArrayExpressQ9NWW5.
BgeeQ9NWW5.
CleanExHS_CLN6.
GenevestigatorQ9NWW5.

Family and domain databases

ProtoNetSearch...

Other

ChiTaRSCLN6. human.
GeneWikiCLN6.
GenomeRNAi54982.
NextBio58254.
PROQ9NWW5.
SOURCESearch...

Entry information

Entry nameCLN6_HUMAN
AccessionPrimary (citable) accession number: Q9NWW5
Secondary accession number(s): A8K560, Q6IAB1, Q96SR0
Entry history
Integrated into UniProtKB/Swiss-Prot: June 16, 2003
Last sequence update: October 1, 2000
Last modified: April 16, 2014
This is version 114 of the entry and version 1 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

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 15

Human chromosome 15: entries, gene names and cross-references to MIM