Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15555: Variant p.Asn68Ser

Microtubule-associated protein RP/EB family member 2
Gene: MAPRE2
Feedback?
Variant information Variant position: help 68
Type of variant: help LP/P [Disclaimer]
Residue change: help From Asparagine (N) to Serine (S) at position 68 (N68S, p.Asn68Ser).
Physico-chemical properties: help Change from medium size and polar (N) to small size and polar (S)
BLOSUM score: help 1
Variant description: help In CSCSC2; enhances binding to microtubules.
Other resources: help


Sequence information Variant position: help 68
Protein sequence length: help 327
Location on the sequence: help VYSTSITQETMSRHDIIAWV N DIVSLNYTKVEQLCSGAAYC
Residue conservation: help 
Human                         VYSTSITQETMSRHDIIAWVNDIVSLNYTKVEQLCSGAAYC

Mouse                         VYSTSITQETMSRHDIIAWVNDIVSLNYTKVEQLCSGAAYC

Rat                           VYSTSITQETMSRHDIIAWVNDIVSLNYTKVEQLCSGAAYC

Bovine                        VYSTSITQETMSRHDIIAWVNDIVSLNYTKVEQLCSGAAYC

Chicken                       VYSTSITQETMSRHDIIAWVNDILALNYTKVEQLCSGAAYC

Xenopus laevis                VYSTSITQETMSRHDIIAWVNDIVCLNYIKVEQLSSGAAYC
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 327 Microtubule-associated protein RP/EB family member 2
Domain 57 – 159 Calponin-homology (CH)
Alternative sequence 1 – 83 MPGPTQTLSPNGENNNDIIQDNNGTIIPFRKHTVRGERSYSWGMAVNVYSTSITQETMSRHDIIAWVNDIVSLNYTKVEQLCS -> MARTTTTSSRIITGPSFLSGSTQCAGSVPT. In isoform 4.



Literature citations
Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.
Isrie M.; Breuss M.; Tian G.; Hansen A.H.; Cristofoli F.; Morandell J.; Kupchinsky Z.A.; Sifrim A.; Rodriguez-Rodriguez C.M.; Dapena E.P.; Doonanco K.; Leonard N.; Tinsa F.; Moortgat S.; Ulucan H.; Koparir E.; Karaca E.; Katsanis N.; Marton V.; Vermeesch J.R.; Davis E.E.; Cowan N.J.; Keays D.A.; Van Esch H.;
Am. J. Hum. Genet. 97:790-800(2015)
Cited for: INVOLVEMENT IN CSCSC2; VARIANTS CSCSC2 SER-68; CYS-87 AND CYS-143; CHARACTERIZATION OF VARIANTS CSCSC2 SER-68; CYS-87 AND CYS-143; INTERACTION WITH TUBULIN;
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.