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Results for the Protein: Q9NZN1
34222654

IRPL1_HUMAN RecName: Full=Interleukin-1 receptor accessory protein-like 1; Short=IL-1-RAPL-1; Short=IL-1RAPL-1; Short=IL1RAPL-1; AltName: Full=Oligophrenin-4; AltName: Full=Three immunoglobulin domain-containing IL-1 receptor-related 2; Short=TIGIRR-2; AltName: Full=X-linked interleukin-1 receptor accessory protein-like 1; Flags: Precursor

Known Diseases associated with this Protein:
  MENTAL RETARDATION, X-LINKED 21
2
4
2
0
4
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Default View:

Ig1_IL1RAPL-1_like - cd05896
Ig1_IL1R_like - cd05756
Ig - cd00096
Ig2_IL1R_like - cd05757
IG - smart00409
IG_like - smart00410
I-set - pfam07679
IGc2 - smart00408
ig - pfam00047
TIR - smart00255
TIR - pfam01582


Swiss-Prot Protein: Q9NZN1
Identical to: NP_055086
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ig1_IL1R_likecd057562.8e-6332135
Ig1_IL1RAPL-1_likecd058966e-7732135
Igcd000961e-0649132
Ig2_IL1R_likecd057572.1e-13148235
Igcd000967.1e-05160230
Igcd000962.3e-27263348
igpfam000470.00021260336
TIRpfam015824.4e-20407558
IGsmart004098.4e-05149234
IG_likesmart004108.4e-05149234
I-setpfam076790.00048246351
IGsmart004090.0001252352
IG_likesmart004100.0001252352
IGc2smart004080.0001259341
TIRsmart002551.4e-15404562

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_062264Polymorphismp.GLN618HISN/A
Swiss-ProtVAR_062266Polymorphismp.ILE643VALN/A
Swiss-ProtVAR_062263Polymorphismp.LYS379ARGN/A
Swiss-ProtVAR_062265Polymorphismp.THR637SERN/A
OMIM300206.0002 Diseasep.TRP487TERMENTAL RETARDATION, X-LINKED 21
OMIM300206.0001 Diseasep.TYR459TERMENTAL RETARDATION, X-LINKED 21



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