UniProtKB/SwissProt variant VAR

Lamin-B2
Gene: LMNB2
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Variant information Variant position:

157
Type of variant:

LP/P [Disclaimer]
Residue change:

From Histidine (H) to Tyrosine (Y) at position 157 (H157Y, p.His157Tyr).
Physico-chemical properties:

Change from medium size and polar (H) to large size and aromatic (Y)
BLOSUM score:

2
Variant description:

In EPM9; disrupts fibrillar formation.
Other resources:

Variant rs797045143 [ dbSNP | Ensembl ]

Sequence information Variant position:

157
Protein sequence length:

620
Location on the sequence:

KREGELTVAQGRVKDLESLF H RSEVELAAALSDKRGLESDV
Residue conservation:

Human                         KREGELTVAQGRVKDLESLFHRSEVELAAALSDKRGLESDV

Mouse                         KREGELTVAQGRVKDLESLFHRSEAELATALSDKQGLETEV

Chicken                       KKDADLSVAQGRIKDLEVLFHRSEAELNTVLNEKRSLEAEV

Xenopus laevis                KKDADLSTAQGRIKDLEALFHRSEAELGTALGEKRSLEAEV

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 617	Lamin-B2
Domain	46 – 402	IF rod
Region	96 – 229	Coil 1B

Literature citations
Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia.
Damiano J.A.; Afawi Z.; Bahlo M.; Mauermann M.; Misk A.; Arsov T.; Oliver K.L.; Dahl H.H.; Shearer A.E.; Smith R.J.; Hall N.E.; Mahmood K.; Leventer R.J.; Scheffer I.E.; Muona M.; Lehesjoki A.E.; Korczyn A.D.; Herrmann H.; Berkovic S.F.; Hildebrand M.S.;
Hum. Mol. Genet. 24:4483-4490(2015)
Cited for: VARIANT EPM9 TYR-157; CHARACTERIZATION OF VARIANT EPM9 TYR-157;

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 Q03252: Variant p.His157Tyr