| Type | Description |
|---|---|
| Definition | rotatin |
| Date | Results | Publications |
|---|---|---|
| 2020-03-21 11:44:00 | Study reports on a consanguineous family with three adult members with primary microcephaly, developmental delay, primordial dwarfism, and brachydactyly segregating a homozygous splice site variant NM_173630.3:c.5648-5T>A in RTTN. The variant RTTN allele results in a nonhypomorphic skipping of exon 42 and a frameshift [(NP_775901.3:p.Ala1883Glyfs*6)]. | 30927481 |
| 2019-02-23 13:33:00 | We here report three individuals from two unrelated families with novel mutations in the RTTN gene. The phenotype consisted of microcephaly, short stature, pachygyria or polymicrogyria, colpocephaly, hypoplasia of the corpus callosum and superior vermis. These findings provide further confirmation of the phenotype related to pathogenic variants in RTTN. | 29883675 |
| 2019-02-23 10:44:00 | We identified, by trio based whole exome sequencing, a homozygous missense mutation in the RTTN gene (c.2953A>G; p.(Arg985Gly)) in one Moroccan patient from a consanguineous family. | 30121372 |
| 2019-02-09 10:51:00 | Data show that PPP1R35 acts downstream of, and forms a complex with, RTTN, a microcephaly protein required for distal centriole elongation. | 30168418 |
| 2017-12-16 11:47:00 | RTTN directly interacts with STIL and acts downstream of STIL-mediated centriole assembly, contributing to building full-length centrioles. | 28811500 |
| Type | IDs |
|---|---|
| Synonymous | MSSP |
| Gene |
UniProtKB-ID:
RTTN_HUMAN
UniprotKB:
Q86VV8
UniParc:
UPI0001D1477A,
UPI000048A0EE,
UPI0000201E92,
UPI000014030A
EMBL:
AK126538,
AC011930,
BC007359,
CR749799,
BC046222,
AL117635,
AC021701,
BC026879,
AK096404,
AK128137,
BC047602
Ensembl:
ENSG00000176225
KO:
hsa:25914
|
| Nucleutide sequences |
EMBL-CDS:
AAH46222.2,
CAB56025.2,
BAC86583.1,
BAC87292.1,
CAH18659.1,
AAH07359.2,
AAH26879.1,
AAH47602.1
Ensembl_TRS:
ENST00000640769,
ENST00000255674
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000491507,
ENSP00000255674
RefSeq:
XP_006722498.1,
NP_775901.3,
XP_011524207.1,
XP_011524210.1,
XP_016881183.1,
XP_016881182.1,
XP_011524206.1,
XP_024306907.1,
NP_001305449.1,
XP_011524208.1,
XP_011524205.1,
XP_016881185.1,
XP_011524209.1,
XP_006722497.1,
XP_024306908.1,
XP_011524204.1,
XP_016881184.1
|
| Others |
UniRef100:
UniRef100_Q86VV8
UniRef90:
UniRef90_Q86VV8
UniRef50:
UniRef50_Q86VV8
UniGene:
Hs.654809
CCDS:
CCDS42443.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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