UniProtKB/SwissProt variant VAR

DNA-directed RNA polymerase I subunit RPA34
Gene: POLR1G
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Variant information Variant position:

504
Type of variant:

LB/B
Residue change:

From Glutamine (Q) to Lysine (K) at position 504 (Q504K, p.Gln504Lys).
Physico-chemical properties:

Change from medium size and polar (Q) to large size and basic (K)
BLOSUM score:

1
Other resources:

Variant rs3212986 [ dbSNP | Ensembl ]

Sequence information Variant position:

504
Protein sequence length:

510
Location on the sequence:

PPLNSESGEEAPTGRDKKRK Q QQQQPV
Residue conservation:

Human                         PPLNSESGEEAPTGRDKKRKQQQQQPV

Mouse                         ---------------------------

Baker's yeast                 ---------------------------

Fission yeast                 ---------------------------

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 510	DNA-directed RNA polymerase I subunit RPA34
Region	203 – 510	Disordered
Modified residue	490 – 490	Phosphoserine

Literature citations
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT LYS-504;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O15446: Variant p.Gln504Lys