Results for the protein: P08069

Results for the Protein: P08069

124240

3480

IGF1R

NCBI, UniProt

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 ↕
FN3	smart00060	5.5e-06	489	591
FN3	smart00060	9.9e-07	832	914
Pkinase_Tyr	pfam07714	2.4e-154	999	1266
TyrKc	smart00219	9.1e-144	999	1266
STYKc	smart00221	1.2e-52	999	1268
S_TKc	smart00220	1.6e-40	1009	1270

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_041427	Polymorphism	p.ALA1338THR	N/A
Swiss-Prot	VAR_034897	Polymorphism	p.ALA828THR	N/A
Swiss-Prot	VAR_041428	Polymorphism	p.ALA1347VAL	N/A
Swiss-Prot	VAR_034891	Disease	p.ARG138GLN	Insulin-like growth factor 1 resistance (IGF1RES)
Swiss-Prot	VAR_034894	Polymorphism	p.ARG511GLN	N/A
Swiss-Prot	VAR_034895	Disease	p.ARG739GLN	Insulin-like growth factor 1 resistance (IGF1RES)
Swiss-Prot	VAR_034893	Polymorphism	p.ARG437HIS	N/A
Swiss-Prot	VAR_041425	Polymorphism	p.ARG595HIS	N/A
Swiss-Prot	VAR_018856	Polymorphism	p.ARG605HIS	N/A
Swiss-Prot	VAR_041426	Polymorphism	p.ASN857SER	N/A
Swiss-Prot	VAR_034896	Polymorphism	p.HIS808ARG	N/A
Swiss-Prot	VAR_034892	Disease	p.LYS145ASN	Insulin-like growth factor 1 resistance (IGF1RES)
Swiss-Prot	VAR_041424	Polymorphism	p.VAL105LEU	N/A
Swiss-Prot	VAR_018855	Polymorphism	p.VAL388MET	N/A
OMIM	147370.0001	Disease	p.ARG108GLN	INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
OMIM	147370.0005	Disease	p.ARG481GLN	INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
OMIM	147370.0004	Disease	p.ARG709GLN	INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
OMIM	147370.0003	Disease	p.ARG59TER	INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO
OMIM	147370.0002	Disease	p.LYS115ASN	INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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