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Results for the Protein: Q02388
1345650

CO7A1_HUMAN RecName: Full=Collagen alpha-1(VII) chain; AltName: Full=Long-chain collagen; Short=LC collagen; Flags: Precursor

Known Diseases associated with this Protein:
  EPIDERMOLYSIS BULLOS
  EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT (DDEB)
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (RDEB)
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE,
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE (HS-DEB)
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE (P-DEB)
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL TYPE (PR-DEB)
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, WITH SUBCORNEAL CLEAVAGE (EBDSC)
  EPIDERMOLYSIS BULLOSA PRURIGINOSA (EBP)
  EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
  EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
  EPIDERMOLYSIS BULLOSA, PRETIBIAL
  EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE
  NAIL DISORDER, NON-SYNDROMIC CONGENITAL, 8 (NDNC8)
  NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED
  NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED;;
  TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN
  TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN (TBDN)
  VARIANT
107
13
32
3
85
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

vWA_ATR - cd01474
vWA_collagen_alpha_1 - cd01480
vWA_Matrilin - cd01475
VWA - smart00327
vWFA_subfamily_ECM - cd01450
vWA_collagen_alphaI- - cd01482
VWA_integrin_inverte - cd01476
vWA_collagen_alpha3- - cd01481
vWA_collagen - cd01472
vWA_micronemal_prote - cd01471
vWA_integrins_alpha_ - cd01469
vWFA - cd00198
vWA_norD_type - cd01454
VWA - pfam00092
FN3 - cd00063
FN3 - smart00060
fn3 - pfam00041
Collagen - pfam01391
KU - smart00131
KU - cd00109
Kunitz_BPTI - pfam00014


Swiss-Prot Protein: Q02388
Identical to: NP_000085
   Default View:
















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
vWA_ATRcd014744.4e-0531219
vWA_Matrilincd014755.8e-2035260
vWA_collagen_alpha_1cd014801.3e-1035203
vWFAcd001982.4e-3637196
vWA_norD_typecd014543.5e-0537194
vWA_micronemal_protecd014711.6e-1037195
vWA_integrins_alpha_cd014699.6e-2637207
vWA_collagencd014723.1e-8237201
VWA_integrin_invertecd014761.3e-0837196
vWA_collagen_alpha3-cd014811.1e-3137201
vWFA_subfamily_ECMcd014501.6e-6137197
vWA_collagen_alphaI-cd014828.1e-10937201
FN3cd000632.5e-19232325
FN3cd000638.8e-14328413
FN3cd000634e-10415502
FN3cd000632.8e-10508593
FN3cd000639.5e-14598683
FN3cd000631.2e-18686771
FN3cd000631.8e-09776862
FN3cd000636e-16867952
FN3cd000636.5e-109571046
vWFAcd001983.1e-0610531214
vWA_collagencd014723.2e-0710531219
vWFA_subfamily_ECMcd014506.3e-2410531214
KUcd001096.7e-3028742930
VWApfam000923e-5838211
fn3pfam000411.8e-19233318
fn3pfam000411.2e-08329407
fn3pfam000418.2e-07416495
fn3pfam000416.6e-07509587
fn3pfam000412e-09599677
fn3pfam000413e-13687765
fn3pfam000416.4e-09777853
fn3pfam000411.9e-11868945
VWApfam000926.8e-2310541229
Collagenpfam013911.6e-1312631322
Collagenpfam013914.4e-1113261391
Collagenpfam013914.3e-0813921450
Collagenpfam013911.7e-1214531512
Collagenpfam013917.1e-1115131580
Collagenpfam013911.3e-1215861645
Collagenpfam013911.6e-1416461705
Collagenpfam013913.5e-1117141772
Collagenpfam013912.2e-1317731832
Collagenpfam013912.8e-1218331892
Collagenpfam013911.7e-0818931942
Collagenpfam013911.7e-1219852045
Collagenpfam013912.2e-1120462113
Collagenpfam013915.9e-1521142173
Collagenpfam013914.1e-1121742232
Collagenpfam013915.4e-1422332292
Collagenpfam013913.7e-1123042365
Collagenpfam013911.1e-1123692430
Collagenpfam013911.8e-1124312489
Collagenpfam013912e-1224902553
Collagenpfam013913.7e-1225542613
Collagenpfam013913.9e-1326142673
Collagenpfam013911.4e-1226742733
Collagenpfam013913.4e-1027342789
Kunitz_BPTIpfam000147.2e-2528752930
VWAsmart003273e-4836216
FN3smart000602.2e-16232316
FN3smart000602.4e-09327404
FN3smart000601.6e-09415493
FN3smart000604.8e-08508584
FN3smart000602.9e-10598674
FN3smart000605.9e-14686764
FN3smart000601.2e-05776853
FN3smart000603.1e-13864943
FN3smart000601.6e-109551039
VWAsmart003272.7e-1810521227
KUsmart001311e-2828742929

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs17080261 Polymorphismp.ALA1864THRN/A
Swiss-ProtVAR_011172Diseasep.ARG2008CYSEpidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB)
Swiss-ProtVAR_064996Diseasep.ARG2069CYSEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_001816Diseasep.ARG2008GLYEpidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB)
Swiss-ProtVAR_048766Polymorphismp.ARG1120LYSN/A
Swiss-ProtVAR_035742Polymorphismp.ARG1366TRPN/A
Swiss-ProtVAR_011166Diseasep.ARG1772TRPEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_001823Diseasep.ARG2063TRPEpidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB)
Swiss-ProtVAR_065001Diseasep.ARG2622TRPEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_011201Diseasep.ARG2791TRPEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_011170Diseasep.GLY2006ALAEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_001817Diseasep.GLY2025ALAEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_011175Diseasep.GLY2028ALAEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_064998Polymorphismp.GLY2221ALAN/A
Swiss-ProtVAR_011199Diseasep.GLY2740ALAEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_011160Diseasep.GLY1347ARGEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_001812Diseasep.GLY1557ARGEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_015519Diseasep.GLY1595ARGNail disorder, non-syndromic congenital, 8 (NDNC8)
Swiss-ProtVAR_011163Diseasep.GLY1604ARGEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_011164Diseasep.GLY1652ARGEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_011167Diseasep.GLY1776ARGEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_001813Diseasep.GLY1782ARGEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_011169Diseasep.GLY1812ARGEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_015520Diseasep.GLY1815ARGNail disorder, non-syndromic congenital, 8 (NDNC8)
Swiss-ProtVAR_064994Diseasep.GLY1845ARGEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_001815Diseasep.GLY2003ARGEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_011173Diseasep.GLY2009ARGEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_011176Diseasep.GLY2028ARGEpidermolysis bullosa pruriginosa (EBP)
Swiss-ProtVAR_001818Diseasep.GLY2034ARGEpidermolysis bullosa dystrophica, with subcorneal cleavage (EBDSC)
Swiss-ProtVAR_001820Diseasep.GLY2043ARGEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_011184Diseasep.GLY2064ARGEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_064997Diseasep.GLY2070ARGEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_011185Diseasep.GLY2079ARGEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_011188Diseasep.GLY2207ARGEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_001828Diseasep.GLY2242ARGEpidermolysis bullosa pruriginosa (EBP)
Swiss-ProtVAR_011191Polymorphismp.GLY2287ARGN/A
Swiss-ProtVAR_011192Polymorphismp.GLY2316ARGN/A
Swiss-ProtVAR_011193Polymorphismp.GLY2348ARGN/A
Swiss-ProtVAR_001829Polymorphismp.GLY2351ARGN/A
Swiss-ProtVAR_065000Diseasep.GLY2557ARGEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_001830Diseasep.GLY2569ARGEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_001831Diseasep.GLY2575ARGEpidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB)
Swiss-ProtVAR_001833Diseasep.GLY2653ARGEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_001835Diseasep.GLY2674ARGEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_011198Diseasep.GLY2713ARGEpidermolysis bullosa pruriginosa (EBP)
Swiss-ProtVAR_001836Diseasep.GLY2749ARGEpidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB)
Swiss-ProtVAR_011161Diseasep.GLY1519ASPTransient bullous dermolysis of the newborn (TBDN)
Swiss-ProtVAR_011171Diseasep.GLY2006ASPEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_011180Diseasep.GLY2040ASPEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_001825Diseasep.GLY2073ASPEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_001826Diseasep.GLY2076ASPEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_011186Diseasep.GLY2132ASPEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_011196Diseasep.GLY2674ASPEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_011197Diseasep.GLY2713ASPEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_001832Diseasep.GLY2623CYSEpidermolysis bullosa dystrophica, pretibial type (PR-DEB)
Swiss-ProtVAR_011162Diseasep.GLY1522GLUEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_011165Diseasep.GLY1703GLUEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_011168Diseasep.GLY1791GLUEpidermolysis bullosa pruriginosa (EBP)
Swiss-ProtVAR_011174Diseasep.GLY2015GLUEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_011179Diseasep.GLY2037GLUEpidermolysis bullosa dystrophica, Pasini type (P-DEB)
Swiss-ProtVAR_001821Diseasep.GLY2049GLUEpidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB)
Swiss-ProtVAR_001822Diseasep.GLY2055GLUEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_001827Diseasep.GLY2079GLUEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_011189Diseasep.GLY2251GLUTransient bullous dermolysis of the newborn (TBDN)
Swiss-ProtVAR_064999Diseasep.GLY2296GLUEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_011177Diseasep.GLY2031SEREpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_001819Diseasep.GLY2040SEREpidermolysis bullosa dystrophica, Pasini type (P-DEB)
Swiss-ProtVAR_011187Diseasep.GLY2192SEREpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_011194Diseasep.GLY2366SEREpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_011195Diseasep.GLY2369SEREpidermolysis bullosa pruriginosa (EBP)
Swiss-ProtVAR_011200Diseasep.GLY2775SEREpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_001814Diseasep.GLY1982TRPEpidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB)
Swiss-ProtVAR_011178Diseasep.GLY2034TRPEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_011182Diseasep.GLY2043TRPEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_011181Diseasep.GLY2040VALEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_011183Diseasep.GLY2046VALEpidermolysis bullosa dystrophica, autosomal dominant (DDEB)
Swiss-ProtVAR_011190Diseasep.GLY2263VALEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_001834Diseasep.GLY2671VALEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_001809Diseasep.LYS142ARGEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_064995Diseasep.LYS1981ARGEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_001837Diseasep.MET2798LYSEpidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB)
Swiss-ProtVAR_001811Diseasep.PRO1277LEUEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_033786Polymorphismp.PRO2429LEUN/A
dbSNPrs2228561 Diseasep.PRO595LEUEpidermolysis bullosa dystrophica, autosomal recessive (RDEB)
Swiss-ProtVAR_035741Polymorphismp.PRO1364THRN/A
dbSNPrs74453879 Polymorphismp.THR30ILEN/A
Swiss-ProtVAR_035740Polymorphismp.THR119PRON/A
Swiss-ProtVAR_048765Polymorphismp.VAL547PHEN/A
OMIM120120.0041 Diseasep.ARG2069CYSEPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE
OMIM120120.0040 Diseasep.ARG109TEREPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE||EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE,
OMIM120120.0032 Diseasep.ARG1630TEREPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
OMIM120120.0037 Diseasep.ARG2471TEREPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
OMIM120120.0034 Diseasep.ARG2063TRPEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
OMIM120120.0043 Diseasep.GLN2827TEREPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE
OMIM120120.0011 Diseasep.GLY1347ARGEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA||VARIANT
OMIM120120.0024 Diseasep.GLY1595ARGEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE||NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED
OMIM120120.0025 Diseasep.GLY1815ARGEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE||NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED
OMIM120120.0008 Diseasep.GLY2003ARGEPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
OMIM120120.0028 Diseasep.GLY2034ARGEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
OMIM120120.0016 Diseasep.GLY2043ARGEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
OMIM120120.0017 Diseasep.GLY2242ARGEPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
OMIM120120.0023 Diseasep.GLY2287ARGEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE||NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED
OMIM120120.0042 Diseasep.GLY2316ARGEPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE
OMIM120120.0036 Diseasep.GLY2653ARGEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
OMIM120120.0038 Diseasep.GLY2749ARGEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
OMIM120120.0015 Diseasep.GLY1519ASPTRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN
OMIM120120.0026 Diseasep.GLY2006ASPEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
OMIM120120.0035 Diseasep.GLY2076ASPEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
OMIM120120.0007 Diseasep.GLY2623CYSEPIDERMOLYSIS BULLOSA, PRETIBIAL
OMIM120120.0044 Diseasep.GLY1522GLUTRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN
OMIM120120.0027 Diseasep.GLY2015GLUEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
OMIM120120.0031 Diseasep.GLY2037GLUEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
OMIM120120.0014 Diseasep.GLY2251GLUTRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN||NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED;;||EPIDERMOLYSIS BULLOS
OMIM120120.0022 Diseasep.GLY2031SEREPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
OMIM120120.0002 Diseasep.GLY2040SEREPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
OMIM120120.0033 Diseasep.GLY2073VALEPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
OMIM120120.0045 Diseasep.LYS142ARGEPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE
OMIM120120.0001 Diseasep.MET2798LYSEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
OMIM120120.0029 Diseasep.PRO1699LEUEPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE
OMIM120120.0005 Diseasep.TYR311TEREPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE



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