Variant position: 68 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 327 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human VYSTSITQETMSRHDIIAWV NDIVSLNYTKVEQLCSGAAYC
Mouse VYSTSITQETMSRHDIIAWV NDIVSLNYTKVEQLCSGAAYC
Rat VYSTSITQETMSRHDIIAWV NDIVSLNYTKVEQLCSGAAYC
Bovine VYSTSITQETMSRHDIIAWV NDIVSLNYTKVEQLCSGAAYC
Chicken VYSTSITQETMSRHDIIAWV NDILALNYTKVEQLCSGAAYC
Xenopus laevis VYSTSITQETMSRHDIIAWV NDIVCLNYIKVEQLSSGAAYC
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 327 Microtubule-associated protein RP/EB family member 2
57 – 159 Calponin-homology (CH)
1 – 83 MPGPTQTLSPNGENNNDIIQDNNGTIIPFRKHTVRGERSYSWGMAVNVYSTSITQETMSRHDIIAWVNDIVSLNYTKVEQLCS -> MARTTTTSSRIITGPSFLSGSTQCAGSVPT. In isoform 4.
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;
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.