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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P40763: Variant p.Thr389Ile

Signal transducer and activator of transcription 3
Gene: STAT3
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Variant information Variant position: help 389
Type of variant: help LP/P [Disclaimer]
Residue change: help From Threonine (T) to Isoleucine (I) at position 389 (T389I, p.Thr389Ile).
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (I)
BLOSUM score: help -1
Variant description: help In HIES1; likely pathogenic; loss of transcriptional activity.
Other resources: help


Sequence information Variant position: help 389
Protein sequence length: help 770
Location on the sequence: help DKDSGDVAALRGSRKFNILG T NTKVMNMEESNNGSLSAEFK
Residue conservation: help 
Human                         DKDSGDVAALRGSRKFNILGTNTKVMNMEESNNGSLSAEFK

Mouse                         DKDSGDVAALRGSRKFNILGTNTKVMNMEESNNGSLSAEFK

Rat                           DKDSGDVAALRGSRKFNILGTNTKVMNMEESNNGSLSAEFK

Pig                           DKDSGDVAALRGSRKFNILGTNTKVMNMEESNNGSLSAEFK

Bovine                        DKDSGDVAALRGSRKFNILGTNTKVMNMEESNNGSLSAEFK

Chicken                       DKDSGDVAALRGSRKFNILGTNTKVMNMEESNNGSLSAEFK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 770 Signal transducer and activator of transcription 3



Literature citations
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.
Minegishi Y.; Saito M.; Tsuchiya S.; Tsuge I.; Takada H.; Hara T.; Kawamura N.; Ariga T.; Pasic S.; Stojkovic O.; Metin A.; Karasuyama H.;
Nature 448:1058-1062(2007)
Cited for: VARIANTS HIES1 GLN-382; TRP-382; ILE-389; TYR-437 AND VAL-463 DEL; CHARACTERIZATION OF VARIANTS HIES1 GLN-382; TRP-382; ILE-389; TYR-437 AND VAL-463 DEL; Signal transducer and activator of transcription 3 mutation with invasive eosinophilic disease.
Crosby K.; Swender D.; Chernin L.; Hafez-Khayyata S.; Ochs H.; Tcheurekdjian H.; Hostoffer R.;
Allergy Rhinol. (Providence) 3:E94-E97(2012)
Cited for: VARIANT HIES1 ILE-389;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.