UniProtKB/SwissProt variant VAR

Probable C-mannosyltransferase DPY19L2
Gene: DPY19L2
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Variant information Variant position:

51
Type of variant:

LB/B
Residue change:

From Serine (S) to Alanine (A) at position 51 (S51A, p.Ser51Ala).
Physico-chemical properties:

Change from small size and polar (S) to small size and hydrophobic (A)
BLOSUM score:

1
Other resources:

Variant rs10878073 [ dbSNP | Ensembl ]

Sequence information Variant position:

51
Protein sequence length:

758
Location on the sequence:

PEVEEEMEKSALGGGKLPRG S WRSSPGRIQSLKERKGLELE
Residue conservation:

Human                         PEVEEE----------MEKSALGGGKLPRGSWRSSPGRIQSLKERKGLELE

Mouse                         PQQERSAPQERTKWSLLQHFLLGGRKLPSGARNYAARRIQS

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 758	Probable C-mannosyltransferase DPY19L2
Topological domain	1 – 107	Nuclear
Region	1 – 58	Disordered
Alternative sequence	1 – 553	Missing. In isoform 2.

Literature citations
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
Clark H.F.; Gurney A.L.; Abaya E.; Baker K.; Baldwin D.T.; Brush J.; Chen J.; Chow B.; Chui C.; Crowley C.; Currell B.; Deuel B.; Dowd P.; Eaton D.; Foster J.S.; Grimaldi C.; Gu Q.; Hass P.E.; Heldens S.; Huang A.; Kim H.S.; Klimowski L.; Jin Y.; Johnson S.; Lee J.; Lewis L.; Liao D.; Mark M.R.; Robbie E.; Sanchez C.; Schoenfeld J.; Seshagiri S.; Simmons L.; Singh J.; Smith V.; Stinson J.; Vagts A.; Vandlen R.L.; Watanabe C.; Wieand D.; Woods K.; Xie M.-H.; Yansura D.G.; Yi S.; Yu G.; Yuan J.; Zhang M.; Zhang Z.; Goddard A.D.; Wood W.I.; Godowski P.J.; Gray A.M.;
Genome Res. 13:2265-2270(2003)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS VAL-37; VAL-41 AND ALA-51; 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); VARIANTS VAL-37 AND VAL-41 AND ALA-51;

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 Q6NUT2: Variant p.Ser51Ala