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UniProtKB/Swiss-Prot O15160: Variant p.Asn32Ile

DNA-directed RNA polymerases I and III subunit RPAC1
Gene: POLR1C
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Variant information Variant position: help 32
Type of variant: help LP/P [Disclaimer]
Residue change: help From Asparagine (N) to Isoleucine (I) at position 32 (N32I, p.Asn32Ile).
Physico-chemical properties: help Change from medium size and polar (N) to medium size and hydrophobic (I)
BLOSUM score: help -3
Variant description: help In HLD11; decreased localization to the nucleus and retained in the cytoplasm; loss of association with RNA polymerase III-transcribed genes; decreased association with RNA polymerase III complex; probably prevents RNA polymerase III complex assembly and activity.
Other resources: help


Sequence information Variant position: help 32
Protein sequence length: help 346
Location on the sequence: help SRVVLGEFGVRNVHTTDFPG N YSGYDDAWDQDRFEKNFRVD
Residue conservation: help 
Human                         SRVVLGEFGVRNVHTTDFPGNYS--GYDDAWDQDRFEKNFRVD

Mouse                         TRVVLGEFGVRNVHTTDFPGNYA--GYDDAWDQNRFEKNFR

Bovine                        TRVVLGEFGVRNVHTTDFPGNYS--GYDDAWDQDRFEKNFR

Slime mold                    TKVTLTNSGVENARGTYYSGAYTSVGYDNSFNLNRFKENFK

Baker's yeast                 --VGIEYNRVTNTTSTDFPGFSK--DAENEWNVEKFKKDFE

Fission yeast                 TEISVLSDRVTDVGSVDFPGYYF--DEDNIWDLDKFKKNLK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 346 DNA-directed RNA polymerases I and III subunit RPAC1
Beta strand 32 – 35



Literature citations
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.
Thiffault I.; Wolf N.I.; Forget D.; Guerrero K.; Tran L.T.; Choquet K.; Lavallee-Adam M.; Poitras C.; Brais B.; Yoon G.; Sztriha L.; Webster R.I.; Timmann D.; van de Warrenburg B.P.; Seeger J.; Zimmermann A.; Mate A.; Goizet C.; Fung E.; van der Knaap M.S.; Fribourg S.; Vanderver A.; Simons C.; Taft R.J.; Yates J.R. III; Coulombe B.; Bernard G.;
Nat. Commun. 6:7623-7632(2015)
Cited for: SUBCELLULAR LOCATION; SUBUNIT; FUNCTION; INVOLVEMENT IN HLD11; VARIANTS HLD11 ILE-26; ILE-32; VAL-65; SER-74; ALA-94; HIS-109; ASP-132; ARG-146; GLN-191; THR-262; LYS-295 DEL AND LYS-324; CHARACTERIZATION OF VARIANTS HLD11 ILE-32 AND SER-74; CHARACTERIZATION OF VARIANT TCS3 GLN-279;
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.