UniProtKB/SwissProt variant VAR

116 kDa U5 small nuclear ribonucleoprotein component
Gene: EFTUD2
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Variant information Variant position:

637
Type of variant:

LP/P [Disclaimer]
Residue change:

From Leucine (L) to Arginine (R) at position 637 (L637R, p.Leu637Arg).
Physico-chemical properties:

Change from medium size and hydrophobic (L) to large size and basic (R)
BLOSUM score:

-2
Variant description:

In MFDM.
Other resources:

Variant rs387906879 [ dbSNP | Ensembl ]

Sequence information Variant position:

637
Protein sequence length:

972
Location on the sequence:

LTTKVEESGEHVILGTGELY L DCVMHDLRKMYSEIDIKVAD
Residue conservation:

Human                         LTTKVEESGEHVILGTGELYLDCVMHDLRKMYSEIDIKVAD

Mouse                         LTTKVEESGEHVILGTGELYLDCVMHDLRKMYSEIDIKVAD

Bovine                        LTTKVEESGEHVILGTGELYLDCVMHDLRKMYSEIDIKVAD

Chicken                       LTTKVEESGEHVILGTGELYLDCVMHDLRKMYSEIDIKVAD

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 972	116 kDa U5 small nuclear ribonucleoprotein component
Helix	634 – 646

Literature citations
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
Lines M.A.; Huang L.; Schwartzentruber J.; Douglas S.L.; Lynch D.C.; Beaulieu C.; Guion-Almeida M.L.; Zechi-Ceide R.M.; Gener B.; Gillessen-Kaesbach G.; Nava C.; Baujat G.; Horn D.; Kini U.; Caliebe A.; Alanay Y.; Utine G.E.; Lev D.; Kohlhase J.; Grix A.W.; Lohmann D.R.; Hehr U.; Bohm D.; Majewski J.; Bulman D.E.; Wieczorek D.; Boycott K.M.;
Am. J. Hum. Genet. 90:369-377(2012)
Cited for: VARIANTS MFDM TRP-262; ARG-476 AND ARG-637;

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 Q15029: Variant p.Leu637Arg