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UniProtKB/Swiss-Prot Q5H9L4: Variant p.Glu61Lys

Transcription initiation factor TFIID subunit 7-like
Gene: TAF7L
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Variant information Variant position: help 61
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Lysine (K) at position 61 (E61K, p.Glu61Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 61
Protein sequence length: help 462
Location on the sequence: help TTYESSADIAGDEGTQIPAD E DTQTDADSSAQAAAQAPENF
Residue conservation: help
Human                         TTYESSADIAGDEGTQIPADEDTQTDADSSAQAAAQAPENF

Mouse                         GA-GDTCDTRGARGPPTPGRAKSQ---KTPRQGTARCQTLE

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 462 Transcription initiation factor TFIID subunit 7-like
Region 1 – 97 Disordered
Alternative sequence 1 – 86 Missing. In isoform 2 and isoform 3.



Literature citations
The role of the testis-specific gene hTAF7L in the aetiology of male infertility.
Stouffs K.; Willems A.; Lissens W.; Tournaye H.; Van Steirteghem A.; Liebaers I.;
Mol. Hum. Reprod. 12:263-267(2006)
Cited for: VARIANTS LYS-61; GLY-308; 350-ASP-GLU-351 DEL AND HIS-458;
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.