UniProtKB/SwissProt variant VAR

Protein bicaudal D homolog 2
Gene: BICD2
Feedback?

Variant information Variant position:

508
Type of variant:

LP/P [Disclaimer]
Residue change:

From Lysine (K) to Threonine (T) at position 508 (K508T, p.Lys508Thr).
Physico-chemical properties:

Change from large size and basic (K) to medium size and polar (T)
BLOSUM score:

-1
Variant description:

In SMALED2A.
Other resources:

Variant rs398123031 [ dbSNP | Ensembl ]

Sequence information Variant position:

508
Protein sequence length:

824
Location on the sequence:

LEKASRQDRELLARLEKELK K VSDVAGETQGSLSVAQDELV
Residue conservation:

Human                         LEKASRQDRELLARLEKELKKVSDVAGETQGSLSVAQDELV

Mouse                         LEKASHQDRELLAHLEKELKKVSDVAGETQGSLNVAQDELV

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	2 – 824	Protein bicaudal D homolog 2
Region	334 – 599	Interaction with KIF5A
Coiled coil	338 – 537

Literature citations
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Oates E.C.; Rossor A.M.; Hafezparast M.; Gonzalez M.; Speziani F.; Macarthur D.G.; Lek M.; Cottenie E.; Scoto M.; Foley A.R.; Hurles M.; Houlden H.; Greensmith L.; Auer-Grumbach M.; Pieber T.R.; Strom T.M.; Schule R.; Herrmann D.N.; Sowden J.E.; Acsadi G.; Menezes M.P.; Clarke N.F.; Zuechner S.; Muntoni F.; North K.N.; Reilly M.M.;
Am. J. Hum. Genet. 92:965-973(2013)
Cited for: VARIANTS SMALED2A LEU-107; PHE-189; PRO-501 AND THR-508; CHARACTERIZATION OF VARIANTS SMALED2A LEU-107 AND PRO-501; INTERACTION WITH DNAI1; SUBCELLULAR LOCATION;

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 Q8TD16: Variant p.Lys508Thr