UniProtKB/SwissProt variant VAR

RING finger protein 39
Gene: RNF39
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Variant information Variant position:

268
Type of variant:

LB/B
Residue change:

From Aspartate (D) to Asparagine (N) at position 268 (D268N, p.Asp268Asn).
Physico-chemical properties:

Change from medium size and acidic (D) to medium size and polar (N)
BLOSUM score:

1
Other resources:

Variant rs1057539 [ dbSNP | Ensembl ]

Sequence information Variant position:

268
Protein sequence length:

420
Location on the sequence:

RSVQLAPPGTPAPPDGPKRF D QLPAVLGAQGFGAGRHCWEV
Residue conservation:

Human                         RSVQLAPPGTPAPPDGPKRFDQLPAVLGAQGFGAGRHCWEV

Rhesus macaque                RSVQLAPPGTPAPPDGPKRFDQLPAVLGAQGFGAGRHCWEV

Chimpanzee                    RSVQLAPPGTPAPPDGPKRFDQLPAVLGAQGFGAGRHCWEV

Rat                           RGVSLAPPGTPVPLDSPERFDRLRAVLGAQGFASGRHCWEV

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 420	RING finger protein 39
Domain	210 – 420	B30.2/SPRY
Alternative sequence	252 – 420	Missing. In isoform 3.

Literature citations
Transcriptional analysis of the 69-kb sequence centromeric to HLA-J: a dense and complex structure of five genes.
Coriton O.; Lepourcelet M.; Hampe A.; Galibert F.; Mosser J.;
Mamm. Genome 11:1127-1131(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2 AND 3); VARIANT ASN-268; TISSUE SPECIFICITY; The DNA sequence and analysis of human chromosome 6.
Mungall A.J.; Palmer S.A.; Sims S.K.; Edwards C.A.; Ashurst J.L.; Wilming L.; Jones M.C.; Horton R.; Hunt S.E.; Scott C.E.; Gilbert J.G.R.; Clamp M.E.; Bethel G.; Milne S.; Ainscough R.; Almeida J.P.; Ambrose K.D.; Andrews T.D.; Ashwell R.I.S.; Babbage A.K.; Bagguley C.L.; Bailey J.; Banerjee R.; Barker D.J.; Barlow K.F.; Bates K.; Beare D.M.; Beasley H.; Beasley O.; Bird C.P.; Blakey S.E.; Bray-Allen S.; Brook J.; Brown A.J.; Brown J.Y.; Burford D.C.; Burrill W.; Burton J.; Carder C.; Carter N.P.; Chapman J.C.; Clark S.Y.; Clark G.; Clee C.M.; Clegg S.; Cobley V.; Collier R.E.; Collins J.E.; Colman L.K.; Corby N.R.; Coville G.J.; Culley K.M.; Dhami P.; Davies J.; Dunn M.; Earthrowl M.E.; Ellington A.E.; Evans K.A.; Faulkner L.; Francis M.D.; Frankish A.; Frankland J.; French L.; Garner P.; Garnett J.; Ghori M.J.; Gilby L.M.; Gillson C.J.; Glithero R.J.; Grafham D.V.; Grant M.; Gribble S.; Griffiths C.; Griffiths M.N.D.; Hall R.; Halls K.S.; Hammond S.; Harley J.L.; Hart E.A.; Heath P.D.; Heathcott R.; Holmes S.J.; Howden P.J.; Howe K.L.; Howell G.R.; Huckle E.; Humphray S.J.; Humphries M.D.; Hunt A.R.; Johnson C.M.; Joy A.A.; Kay M.; Keenan S.J.; Kimberley A.M.; King A.; Laird G.K.; Langford C.; Lawlor S.; Leongamornlert D.A.; Leversha M.; Lloyd C.R.; Lloyd D.M.; Loveland J.E.; Lovell J.; Martin S.; Mashreghi-Mohammadi M.; Maslen G.L.; Matthews L.; McCann O.T.; McLaren S.J.; McLay K.; McMurray A.; Moore M.J.F.; Mullikin J.C.; Niblett D.; Nickerson T.; Novik K.L.; Oliver K.; Overton-Larty E.K.; Parker A.; Patel R.; Pearce A.V.; Peck A.I.; Phillimore B.J.C.T.; Phillips S.; Plumb R.W.; Porter K.M.; Ramsey Y.; Ranby S.A.; Rice C.M.; Ross M.T.; Searle S.M.; Sehra H.K.; Sheridan E.; Skuce C.D.; Smith S.; Smith M.; Spraggon L.; Squares S.L.; Steward C.A.; Sycamore N.; Tamlyn-Hall G.; Tester J.; Theaker A.J.; Thomas D.W.; Thorpe A.; Tracey A.; Tromans A.; Tubby B.; Wall M.; Wallis J.M.; West A.P.; White S.S.; Whitehead S.L.; Whittaker H.; Wild A.; Willey D.J.; Wilmer T.E.; Wood J.M.; Wray P.W.; Wyatt J.C.; Young L.; Younger R.M.; Bentley D.R.; Coulson A.; Durbin R.M.; Hubbard T.; Sulston J.E.; Dunham I.; Rogers J.; Beck S.;
Nature 425:805-811(2003)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS PRO-203; THR-245; ASN-268 AND GLU-304;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H2S5: Variant p.Asp268Asn