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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q16288: Variant p.Val21Phe

NT-3 growth factor receptor
Gene: NTRK3
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Variant information Variant position: help 21
Type of variant: help LB/B
Residue change: help From Valine (V) to Phenylalanine (F) at position 21 (V21F, p.Val21Phe).
Physico-chemical properties: help Change from medium size and hydrophobic (V) to large size and aromatic (F)
BLOSUM score: help -1
Other resources: help


Sequence information Variant position: help 21
Protein sequence length: help 839
Location on the sequence: help MDVSLCPAKCSFWRIFLLGS V WLDYVGSVLACPANCVCSKT
Residue conservation: help 
Human                         MDVSLCPAKCSFWRIFLLGSVWLDYVGSVLACPANCVCSKT

Chimpanzee                    MDVSLCPAKCSFWRIFLLGSVWLDYVGSVLACPANCVCSKT

Mouse                         MDVSLCPAKCSFWRIFLLGSVWLDYVGSVLACPANCVCSKT

Rat                           MDVSLCPAKCSFWRIFLLGSVWLDYVGSVLACPANCVCSKT

Pig                           MDVSLCPAKCSFWRIFLLGSVWLDYVGSVLACPANCVCSKT

Chicken                       MDVSLCPTKCTFWRVFLLWSIWGDYLLSVLACPANCLCSKT
Sequence annotation in neighborhood: help
TypePositionsDescription
Signal peptide 1 – 31



Literature citations
Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease.
Werner P.; Paluru P.; Simpson A.M.; Latney B.; Iyer R.; Brodeur G.M.; Goldmuntz E.;
Hum. Mutat. 35:1459-1468(2014)
Cited for: FUNCTION; PHOSPHORYLATION AT TYR-516; INVOLVEMENT IN CHD; VARIANTS PHE-21; VAL-71; MET-93; ILE-163; PHE-533 AND MET-817; CHARACTERIZATION OF VARIANTS MET-93; ILE-163; PHE-533 AND MET-817; MUTAGENESIS OF LYS-572;
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.