Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 7559 | 22900;22901;22902 | chr2:178721988;178721987;178721986 | chr2:179586715;179586714;179586713 |
N2AB | 7242 | 21949;21950;21951 | chr2:178721988;178721987;178721986 | chr2:179586715;179586714;179586713 |
N2A | 6315 | 19168;19169;19170 | chr2:178721988;178721987;178721986 | chr2:179586715;179586714;179586713 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
Novex-3 | None | None | chr2:None | chr2:None |
SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
G/E | rs2078443515 | None | 1.0 | N | 0.705 | 0.332 | 0.288352970974 | gnomAD-4.0.0 | 1.59178E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85951E-06 | 0 | 0 |
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
G/A | 0.3508 | ambiguous | 0.459 | ambiguous | -0.23 | Destabilizing | 0.999 | D | 0.523 | neutral | N | 0.433449044 | None | None | N |
G/C | 0.6796 | likely_pathogenic | 0.7584 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
G/D | 0.8083 | likely_pathogenic | 0.8645 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
G/E | 0.7596 | likely_pathogenic | 0.845 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | N | 0.414727211 | None | None | N |
G/F | 0.8608 | likely_pathogenic | 0.9142 | pathogenic | -0.853 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
G/H | 0.7914 | likely_pathogenic | 0.8878 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
G/I | 0.6449 | likely_pathogenic | 0.7737 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
G/K | 0.7978 | likely_pathogenic | 0.8736 | pathogenic | -0.591 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
G/L | 0.7926 | likely_pathogenic | 0.8794 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
G/M | 0.7872 | likely_pathogenic | 0.8713 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
G/N | 0.6462 | likely_pathogenic | 0.7624 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
G/P | 0.9581 | likely_pathogenic | 0.9738 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
G/Q | 0.653 | likely_pathogenic | 0.7854 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
G/R | 0.5919 | likely_pathogenic | 0.7364 | pathogenic | -0.256 | Destabilizing | 0.979 | D | 0.512 | neutral | N | 0.422848049 | None | None | N |
G/S | 0.2067 | likely_benign | 0.3041 | benign | -0.546 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
G/T | 0.4869 | ambiguous | 0.6339 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
G/V | 0.5436 | ambiguous | 0.6968 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.489611758 | None | None | N |
G/W | 0.7354 | likely_pathogenic | 0.8185 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
G/Y | 0.7903 | likely_pathogenic | 0.8677 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.