UniProtKB/SwissProt variant VAR

Transcription initiation factor TFIID subunit 7-like
Gene: TAF7L
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Variant information Variant position:

61
Type of variant:

LB/B
Residue change:

From Glutamate (E) to Lysine (K) at position 61 (E61K, p.Glu61Lys).
Physico-chemical properties:

Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score:

1
Other resources:

Variant rs147493489 [ dbSNP | Ensembl ]

Sequence information Variant position:

61
Protein sequence length:

462
Location on the sequence:

TTYESSADIAGDEGTQIPAD E DTQTDADSSAQAAAQAPENF
Residue conservation:

Human                         TTYESSADIAGDEGTQIPADEDTQTDADSSAQAAAQAPENF

Mouse                         GA-GDTCDTRGARGPPTPGRAKSQ---KTPRQGTARCQTLE

Sequence annotation in neighborhood:

Type	Positions	Description
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;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q5H9L4: Variant p.Glu61Lys