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Results for the Protein: P08069
124240

IGF1R_HUMAN RecName: Full=Insulin-like growth factor 1 receptor; AltName: Full=Insulin-like growth factor I receptor; Short=IGF-I receptor; AltName: CD_antigen=CD221; Contains: RecName: Full=Insulin-like growth factor 1 receptor alpha chain; Contains: RecName: Full=Insulin-like growth factor 1 receptor beta chain; Flags: Precursor

Known Diseases associated with this Protein:
  INSULIN-LIKE GROWTH FACTOR 1 RESISTANCE (IGF1RES)
  INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
8
11
5
0
14
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Default View:

FU - smart00261
FN3 - smart00060
STYKc - smart00221
Pkinase_Tyr - pfam07714
TyrKc - smart00219
S_TKc - smart00220


Swiss-Prot Protein: P08069
Identical to: NP_000866
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FUsmart002614.8e-14227270
FN3smart000605.5e-06489591
FN3smart000609.9e-07832914
Pkinase_Tyrpfam077142.4e-1549991266
TyrKcsmart002199.1e-1449991266
STYKcsmart002211.2e-529991268
S_TKcsmart002201.6e-4010091270

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_041427Polymorphismp.ALA1338THRN/A
Swiss-ProtVAR_034897Polymorphismp.ALA828THRN/A
Swiss-ProtVAR_041428Polymorphismp.ALA1347VALN/A
Swiss-ProtVAR_034891Diseasep.ARG138GLNInsulin-like growth factor 1 resistance (IGF1RES)
Swiss-ProtVAR_034894Polymorphismp.ARG511GLNN/A
Swiss-ProtVAR_034895Diseasep.ARG739GLNInsulin-like growth factor 1 resistance (IGF1RES)
Swiss-ProtVAR_034893Polymorphismp.ARG437HISN/A
Swiss-ProtVAR_041425Polymorphismp.ARG595HISN/A
Swiss-ProtVAR_018856Polymorphismp.ARG605HISN/A
Swiss-ProtVAR_041426Polymorphismp.ASN857SERN/A
Swiss-ProtVAR_034896Polymorphismp.HIS808ARGN/A
Swiss-ProtVAR_034892Diseasep.LYS145ASNInsulin-like growth factor 1 resistance (IGF1RES)
Swiss-ProtVAR_041424Polymorphismp.VAL105LEUN/A
Swiss-ProtVAR_018855Polymorphismp.VAL388METN/A
OMIM147370.0001 Diseasep.ARG108GLNINSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
OMIM147370.0005 Diseasep.ARG481GLNINSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
OMIM147370.0004 Diseasep.ARG709GLNINSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
OMIM147370.0003 Diseasep.ARG59TERINSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
OMIM147370.0002 Diseasep.LYS115ASNINSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO



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