Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19213 | 57862;57863;57864 | chr2:178595717;178595716;178595715 | chr2:179460444;179460443;179460442 |
| N2AB | 17572 | 52939;52940;52941 | chr2:178595717;178595716;178595715 | chr2:179460444;179460443;179460442 |
| N2A | 16645 | 50158;50159;50160 | chr2:178595717;178595716;178595715 | chr2:179460444;179460443;179460442 |
| N2B | 10148 | 30667;30668;30669 | chr2:178595717;178595716;178595715 | chr2:179460444;179460443;179460442 |
| Novex-1 | 10273 | 31042;31043;31044 | chr2:178595717;178595716;178595715 | chr2:179460444;179460443;179460442 |
| Novex-2 | 10340 | 31243;31244;31245 | chr2:178595717;178595716;178595715 | chr2:179460444;179460443;179460442 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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/D | None | None | 1.0 | N | 0.704 | 0.517 | 0.431150418975 | gnomAD-4.0.0 | 6.86608E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17838E-05 | 0 |
Saturation Mutagenesis
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 | 0.8697 | likely_pathogenic | 0.8599 | pathogenic | -0.117 | Destabilizing | 1.0 | D | 0.625 | neutral | N | 0.500172506 | None | None | I |
| G/C | 0.9166 | likely_pathogenic | 0.9289 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.781 | deleterious | D | 0.523089381 | None | None | I |
| G/D | 0.9758 | likely_pathogenic | 0.9785 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | N | 0.505946177 | None | None | I |
| G/E | 0.983 | likely_pathogenic | 0.9856 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/F | 0.9854 | likely_pathogenic | 0.9867 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/H | 0.9851 | likely_pathogenic | 0.9859 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/I | 0.9849 | likely_pathogenic | 0.9857 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/K | 0.9854 | likely_pathogenic | 0.9877 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/L | 0.9798 | likely_pathogenic | 0.98 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/M | 0.9871 | likely_pathogenic | 0.9871 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/N | 0.96 | likely_pathogenic | 0.9603 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| G/P | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/Q | 0.9752 | likely_pathogenic | 0.9784 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/R | 0.9597 | likely_pathogenic | 0.9691 | pathogenic | -0.064 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.502832306 | None | None | I |
| G/S | 0.7721 | likely_pathogenic | 0.7981 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.495070398 | None | None | I |
| G/T | 0.9659 | likely_pathogenic | 0.9685 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/V | 0.9761 | likely_pathogenic | 0.9779 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.541193636 | None | None | I |
| G/W | 0.9843 | likely_pathogenic | 0.989 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| G/Y | 0.9822 | likely_pathogenic | 0.9844 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
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.