Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Peripherin-2

Gene

PRPH2

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

Functioni

May function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. It is essential for disk morphogenesis.

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112619-MONOMER.

Protein family/group databases

TCDBi8.A.40.1.3. the tetraspanin (tetraspanin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Peripherin-2
Alternative name(s):
Retinal degeneration slow protein
Tetraspanin-22
Short name:
Tspan-22
Gene namesi
Name:PRPH2
Synonyms:PRPH, RDS, TSPAN22
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

HGNCiHGNC:9942. PRPH2.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 24CytoplasmicSequence analysisAdd BLAST24
Transmembranei25 – 43HelicalSequence analysisAdd BLAST19
Topological domaini44 – 61LumenalSequence analysisAdd BLAST18
Transmembranei62 – 80HelicalSequence analysisAdd BLAST19
Topological domaini81 – 99CytoplasmicSequence analysisAdd BLAST19
Transmembranei100 – 123HelicalSequence analysisAdd BLAST24
Topological domaini124 – 264LumenalSequence analysisAdd BLAST141
Transmembranei265 – 290HelicalSequence analysisAdd BLAST26
Topological domaini291 – 346CytoplasmicSequence analysisAdd BLAST56

GO - Cellular componenti

  • integral component of membrane Source: ProtInc
  • integral component of plasma membrane Source: GO_Central
  • photoreceptor outer segment Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 7 (RP7)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
See also OMIM:608133
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00685313R → W in RP7; in combination with a null mutation of ROM1. 1
Natural variantiVAR_00685545L → F in RP7 and VMD3; results in retinitis pigmentosa in combination with a null mutation of ROM1. 1 PublicationCorresponds to variant rs61755770dbSNPEnsembl.1
Natural variantiVAR_006858118Missing in RP7. 1 Publication1
Natural variantiVAR_075759126L → P in RP7. 1 Publication1
Natural variantiVAR_006859126L → R in RP7. 1
Natural variantiVAR_075761141Y → C in RP7 and VMD3. 2 Publications1
Natural variantiVAR_006860142R → W in RP7; also found in a patient with central areolar choroidal dystrophy. 1 Publication1
Natural variantiVAR_006861153K → R in RP7. 1
Natural variantiVAR_006862153Missing in RP7. 1
Natural variantiVAR_006864165C → Y in RP7. 1
Natural variantiVAR_006869173D → V in RP7. 1
Natural variantiVAR_006871185L → P in RP7; digenic inheritance; results in disease in combination with a null mutation of ROM1. 1 Publication1
Natural variantiVAR_075762198S → R in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006873208G → D in RP7. 1 Publication1
Natural variantiVAR_075764210P → L in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006874210P → R in MDPT1 and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. 3 Publications1
Natural variantiVAR_006875210P → S in RP7. 1
Natural variantiVAR_006876211F → L in RP7. 1
Natural variantiVAR_006877212S → G in RP7. 1 Publication1
Natural variantiVAR_006880214C → S in RP7; decreased protein expression. 1 Publication1
Natural variantiVAR_075765216P → A in RP7. 1 Publication1
Natural variantiVAR_006881216P → L in RP7. 1 Publication1
Natural variantiVAR_075766216P → R in RP7. 1 Publication1
Natural variantiVAR_006882216P → S in RP7. 1
Natural variantiVAR_006884219Missing in RP7. 1 Publication1
Natural variantiVAR_006887244N → K in RP7; with bulls-eye maculopathy. 1 Publication1
Natural variantiVAR_075768249G → S in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006889266G → D in RP7. 1
Retinitis punctata albescens (RPA)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina.
See also OMIM:136880
Macular dystrophy, vitelliform, 3 (VMD3)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of vitelliform macular dystrophy, a retinal disease characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity.
See also OMIM:608161
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00685545L → F in RP7 and VMD3; results in retinitis pigmentosa in combination with a null mutation of ROM1. 1 PublicationCorresponds to variant rs61755770dbSNPEnsembl.1
Natural variantiVAR_075761141Y → C in RP7 and VMD3. 2 Publications1
Natural variantiVAR_075763209V → I in VMD3; increased protein expression. 2 Publications1
Natural variantiVAR_006878212S → T in VMD3. 1 Publication1
Natural variantiVAR_071974213C → F in VMD3. 1 Publication1
Natural variantiVAR_071975237 – 240Missing in VMD3. 1 Publication4
Natural variantiVAR_006890268V → I in VMD3. 1 Publication1
Natural variantiVAR_006892305G → D in VMD3. 1 Publication1
Macular dystrophy, patterned, 1 (MDPT1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of retinal patterned dystrophy, a heterogeneous group of macular disorders that includes reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy.
See also OMIM:169150
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00685667Missing in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_00685768G → R in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_006863157D → N in MDPT1. 1
Natural variantiVAR_006865167G → D in MDPT1; butterfly-shaped. 1 Publication1
Natural variantiVAR_032052167G → S in MDPT1; butterfly-shaped. 1 Publication1
Natural variantiVAR_006866172R → G in MDPT1; butterfly-shaped. 1
Natural variantiVAR_006872193Missing in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_006874210P → R in MDPT1 and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. 3 Publications1
Natural variantiVAR_006879213C → R in MDPT1. 1 Publication1
Natural variantiVAR_006885220R → Q in MDPT1; increased protein expression. 1 Publication1
Natural variantiVAR_006886220R → W in MDPT1. 1 Publication1
Choroidal dystrophy, central areolar 2 (CACD2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease of the macula leading to a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris.
See also OMIM:613105
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075758123R → W in CACD2. 1 Publication1
Natural variantiVAR_032054195R → L in CACD2; increased protein expression. 3 PublicationsCorresponds to variant rs121918567dbSNPEnsembl.1
Natural variantiVAR_075767221P → L in CACD2. 1 Publication1

Defects in PRPH2 are found in different retinal diseases including cone-rod dystrophy, retinitis pigmentosa, macular degeneration. The mutations underlying autosomal dominant retinitis pigmentosa and severe macular degeneration are largely missense or small in-frame deletions in a large intradiscal loop between the third and fourth transmembrane domains. In contrast, those associated with the milder pattern phenotypes or with digenic RP are scattered more evenly through the gene and are often nonsense mutations. This observation correlates with the hypothesis that the large loop is an important site of interaction between PRPH2 molecules and other protein components in the disk.

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNETi5961.
MalaCardsiPRPH2.
MIMi136880. phenotype.
169150. phenotype.
268000. phenotype.
608133. phenotype.
608161. phenotype.
613105. phenotype.
Orphaneti99000. Adult-onset foveomacular vitelliform dystrophy.
99001. Butterfly-shaped pigment dystrophy.
75377. Central areolar choroidal dystrophy.
1872. Cone rod dystrophy.
227796. Fundus albipunctatus.
791. Retinitis pigmentosa.
52427. Retinitis punctata albescens.
PharmGKBiPA34310.

Polymorphism and mutation databases

BioMutaiPRPH2.
DMDMi132212.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001681051 – 346Peripherin-2Add BLAST346

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi53N-linked (GlcNAc...)Sequence analysis1
Glycosylationi229N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP23942.
PeptideAtlasiP23942.
PRIDEiP23942.

PTM databases

iPTMnetiP23942.
PhosphoSitePlusiP23942.

Expressioni

Tissue specificityi

Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.

Gene expression databases

BgeeiENSG00000112619.
CleanExiHS_PRPH.
HS_PRPH2.
GenevisibleiP23942. HS.

Organism-specific databases

HPAiHPA029458.

Interactioni

Subunit structurei

Homodimer; disulfide-linked. Probably forms a complex with a ROM1 homodimer. Other proteins could associate with this complex in rods. Interacts with MREG.

Protein-protein interaction databases

STRINGi9606.ENSP00000230381.

Structurei

3D structure databases

ProteinModelPortaliP23942.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni341 – 346Interaction with MREGBy similarity6

Sequence similaritiesi

Belongs to the PRPH2/ROM1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3882. Eukaryota.
ENOG4111IRY. LUCA.
HOGENOMiHOG000026780.
HOVERGENiHBG004964.
InParanoidiP23942.
KOiK17343.
OrthoDBiEOG091G0956.
PhylomeDBiP23942.
TreeFamiTF331684.

Family and domain databases

InterProiIPR000830. Peripherin/rom-1.
IPR018498. Peripherin/rom-1_CS.
IPR018499. Tetraspanin/Peripherin.
IPR008952. Tetraspanin_EC2.
[Graphical view]
PfamiPF00335. Tetraspannin. 1 hit.
[Graphical view]
PRINTSiPR00218. PERIPHERNRDS.
SUPFAMiSSF48652. SSF48652. 2 hits.
PROSITEiPS00930. RDS_ROM1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P23942-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MALLKVKFDQ KKRVKLAQGL WLMNWFSVLA GIIIFSLGLF LKIELRKRSD
60 70 80 90 100
VMNNSESHFV PNSLIGMGVL SCVFNSLAGK ICYDALDPAK YARWKPWLKP
110 120 130 140 150
YLAICVLFNI ILFLVALCCF LLRGSLENTL GQGLKNGMKY YRDTDTPGRC
160 170 180 190 200
FMKKTIDMLQ IEFKCCGNNG FRDWFEIQWI SNRYLDFSSK EVKDRIKSNV
210 220 230 240 250
DGRYLVDGVP FSCCNPSSPR PCIQYQITNN SAHYSYDHQT EELNLWVRGC
260 270 280 290 300
RAALLSYYSS LMNSMGVVTL LIWLFEVTIT IGLRYLQTSL DGVSNPEESE
310 320 330 340
SESEGWLLEK SVPETWKAFL ESVKKLGKGN QVEAEGAGAG QAPEAG
Length:346
Mass (Da):39,186
Last modified:March 1, 1992 - v1
Checksum:i2BB3C5415E194D2A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti44E → G in AAH74720 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00685313R → W in RP7; in combination with a null mutation of ROM1. 1
Natural variantiVAR_00685432I → V in some patients with macular dystrophy. 1
Natural variantiVAR_00685545L → F in RP7 and VMD3; results in retinitis pigmentosa in combination with a null mutation of ROM1. 1 PublicationCorresponds to variant rs61755770dbSNPEnsembl.1
Natural variantiVAR_00685667Missing in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_00685768G → R in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_006858118Missing in RP7. 1 Publication1
Natural variantiVAR_075758123R → W in CACD2. 1 Publication1
Natural variantiVAR_075759126L → P in RP7. 1 Publication1
Natural variantiVAR_006859126L → R in RP7. 1
Natural variantiVAR_075760137G → S.1 Publication1
Natural variantiVAR_075761141Y → C in RP7 and VMD3. 2 Publications1
Natural variantiVAR_006860142R → W in RP7; also found in a patient with central areolar choroidal dystrophy. 1 Publication1
Natural variantiVAR_006861153K → R in RP7. 1
Natural variantiVAR_006862153Missing in RP7. 1
Natural variantiVAR_006863157D → N in MDPT1. 1
Natural variantiVAR_006864165C → Y in RP7. 1
Natural variantiVAR_006865167G → D in MDPT1; butterfly-shaped. 1 Publication1
Natural variantiVAR_032052167G → S in MDPT1; butterfly-shaped. 1 Publication1
Natural variantiVAR_032053169Missing in some patients with macular dystrophy. 1 Publication1
Natural variantiVAR_006866172R → G in MDPT1; butterfly-shaped. 1
Natural variantiVAR_006867172R → Q in some patients with macular dystrophy. 1 Publication1
Natural variantiVAR_006868172R → W in some patients with macular dystrophy; also in a family affected by central areolar choroidal dystrophy. 3 Publications1
Natural variantiVAR_006869173D → V in RP7. 1
Natural variantiVAR_006870184Y → S in cone-rod dystrophy. 1
Natural variantiVAR_006871185L → P in RP7; digenic inheritance; results in disease in combination with a null mutation of ROM1. 1 Publication1
Natural variantiVAR_006872193Missing in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_032054195R → L in CACD2; increased protein expression. 3 PublicationsCorresponds to variant rs121918567dbSNPEnsembl.1
Natural variantiVAR_075762198S → R in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006873208G → D in RP7. 1 Publication1
Natural variantiVAR_075763209V → I in VMD3; increased protein expression. 2 Publications1
Natural variantiVAR_075764210P → L in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006874210P → R in MDPT1 and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. 3 Publications1
Natural variantiVAR_006875210P → S in RP7. 1
Natural variantiVAR_006876211F → L in RP7. 1
Natural variantiVAR_006877212S → G in RP7. 1 Publication1
Natural variantiVAR_006878212S → T in VMD3. 1 Publication1
Natural variantiVAR_071974213C → F in VMD3. 1 Publication1
Natural variantiVAR_006879213C → R in MDPT1. 1 Publication1
Natural variantiVAR_006880214C → S in RP7; decreased protein expression. 1 Publication1
Natural variantiVAR_075765216P → A in RP7. 1 Publication1
Natural variantiVAR_006881216P → L in RP7. 1 Publication1
Natural variantiVAR_075766216P → R in RP7. 1 Publication1
Natural variantiVAR_006882216P → S in RP7. 1
Natural variantiVAR_006883219P → R in some patients with macular dystrophy. 1 Publication1
Natural variantiVAR_006884219Missing in RP7. 1 Publication1
Natural variantiVAR_006885220R → Q in MDPT1; increased protein expression. 1 Publication1
Natural variantiVAR_006886220R → W in MDPT1. 1 Publication1
Natural variantiVAR_075767221P → L in CACD2. 1 Publication1
Natural variantiVAR_071975237 – 240Missing in VMD3. 1 Publication4
Natural variantiVAR_006888244N → H in cone-rod dystrophy. 1
Natural variantiVAR_006887244N → K in RP7; with bulls-eye maculopathy. 1 Publication1
Natural variantiVAR_075768249G → S in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006889266G → D in RP7. 1
Natural variantiVAR_006890268V → I in VMD3. 1 Publication1
Natural variantiVAR_006891304E → Q Polymorphism; associated with D-338 on the same haplotype. 2 PublicationsCorresponds to variant rs390659dbSNPEnsembl.1
Natural variantiVAR_006892305G → D in VMD3. 1 Publication1
Natural variantiVAR_006893310K → R.1 PublicationCorresponds to variant rs425876dbSNPEnsembl.1
Natural variantiVAR_006894313P → L.1 PublicationCorresponds to variant rs61748434dbSNPEnsembl.1
Natural variantiVAR_006895338G → D Polymorphism; associated with Q-304 on the same haplotype. 2 PublicationsCorresponds to variant rs434102dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M73531 mRNA. Translation: AAA60260.1.
U07149, U07147, U07148 Genomic DNA. Translation: AAA16958.1.
AL049843 Genomic DNA. Translation: CAB75420.1.
BC074720 mRNA. Translation: AAH74720.1.
CCDSiCCDS4871.1.
PIRiA40308.
RefSeqiNP_000313.2. NM_000322.4.
UniGeneiHs.654489.

Genome annotation databases

EnsembliENST00000230381; ENSP00000230381; ENSG00000112619.
GeneIDi5961.
KEGGihsa:5961.
UCSCiuc003osk.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the RDS gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M73531 mRNA. Translation: AAA60260.1.
U07149, U07147, U07148 Genomic DNA. Translation: AAA16958.1.
AL049843 Genomic DNA. Translation: CAB75420.1.
BC074720 mRNA. Translation: AAH74720.1.
CCDSiCCDS4871.1.
PIRiA40308.
RefSeqiNP_000313.2. NM_000322.4.
UniGeneiHs.654489.

3D structure databases

ProteinModelPortaliP23942.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000230381.

Protein family/group databases

TCDBi8.A.40.1.3. the tetraspanin (tetraspanin) family.

PTM databases

iPTMnetiP23942.
PhosphoSitePlusiP23942.

Polymorphism and mutation databases

BioMutaiPRPH2.
DMDMi132212.

Proteomic databases

PaxDbiP23942.
PeptideAtlasiP23942.
PRIDEiP23942.

Protocols and materials databases

DNASUi5961.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000230381; ENSP00000230381; ENSG00000112619.
GeneIDi5961.
KEGGihsa:5961.
UCSCiuc003osk.4. human.

Organism-specific databases

CTDi5961.
DisGeNETi5961.
GeneCardsiPRPH2.
GeneReviewsiPRPH2.
H-InvDBHIX0025091.
HGNCiHGNC:9942. PRPH2.
HPAiHPA029458.
MalaCardsiPRPH2.
MIMi136880. phenotype.
169150. phenotype.
179605. gene.
268000. phenotype.
608133. phenotype.
608161. phenotype.
613105. phenotype.
neXtProtiNX_P23942.
Orphaneti99000. Adult-onset foveomacular vitelliform dystrophy.
99001. Butterfly-shaped pigment dystrophy.
75377. Central areolar choroidal dystrophy.
1872. Cone rod dystrophy.
227796. Fundus albipunctatus.
791. Retinitis pigmentosa.
52427. Retinitis punctata albescens.
PharmGKBiPA34310.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3882. Eukaryota.
ENOG4111IRY. LUCA.
HOGENOMiHOG000026780.
HOVERGENiHBG004964.
InParanoidiP23942.
KOiK17343.
OrthoDBiEOG091G0956.
PhylomeDBiP23942.
TreeFamiTF331684.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000112619-MONOMER.

Miscellaneous databases

ChiTaRSiPRPH2. human.
GeneWikiiPeripherin_2.
GenomeRNAii5961.
PROiP23942.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112619.
CleanExiHS_PRPH.
HS_PRPH2.
GenevisibleiP23942. HS.

Family and domain databases

InterProiIPR000830. Peripherin/rom-1.
IPR018498. Peripherin/rom-1_CS.
IPR018499. Tetraspanin/Peripherin.
IPR008952. Tetraspanin_EC2.
[Graphical view]
PfamiPF00335. Tetraspannin. 1 hit.
[Graphical view]
PRINTSiPR00218. PERIPHERNRDS.
SUPFAMiSSF48652. SSF48652. 2 hits.
PROSITEiPS00930. RDS_ROM1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPRPH2_HUMAN
AccessioniPrimary (citable) accession number: P23942
Secondary accession number(s): Q5TFH5, Q6DK65
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: March 1, 1992
Last modified: November 2, 2016
This is version 164 of the entry and version 1 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 6
    Human chromosome 6: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.