Variant position: 110 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 390 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 GESAEPEPEPEA------DYYAKEVT RVLMVETHNEIYDKFKQSTHS
Mouse GESADPEPEPEA------DYYAKEVT RVLMVDRNNAIYEKT
Rat GESADPEPEPEA------DYYAKEVT RVLMVDRNNAIYDKT
Pig GESVEPEPEPEA------DYYAKEVT RVLMVESGNQIYDKF
Bovine GESAETEPEPEA------DYYAKEVT RVLMVEYGNKIYDKM
Sheep GESAETEPEPEA------DYYAKEVT RVLMVEYGNKIYDKM
Horse GESAETEPEPEA------DYYAKEVT RVLMVEKENEIYKTV
Chicken KQRARLRPPPDGPD----EYWAKELR RIPMETTWDGPMEHW
Xenopus laevis REKATREEEHVGHDQNIQDYYAKQVY RFESITELED-----
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.
Human TGF-beta1 deficiency causes severe inflammatory bowel disease and encephalopathy.
Kotlarz D.; Marquardt B.; Baroey T.; Lee W.S.; Konnikova L.; Hollizeck S.; Magg T.; Lehle A.S.; Walz C.; Borggraefe I.; Hauck F.; Bufler P.; Conca R.; Wall S.M.; Schumacher E.M.; Misceo D.; Frengen E.; Bentsen B.S.; Uhlig H.H.; Hopfner K.P.; Muise A.M.; Snapper S.B.; Stroemme P.; Klein C.;
Nat. Genet. 50:344-348(2018)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN IBDIMDE; VARIANTS IBDIMDE CYS-45; CYS-110 AND ARG-387; CHARACTERIZATION OF VARIANTS IBDIMDE CYS-45; CYS-110 AND ARG-387;
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.