Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20104 | 60535;60536;60537 | chr2:178591415;178591414;178591413 | chr2:179456142;179456141;179456140 |
| N2AB | 18463 | 55612;55613;55614 | chr2:178591415;178591414;178591413 | chr2:179456142;179456141;179456140 |
| N2A | 17536 | 52831;52832;52833 | chr2:178591415;178591414;178591413 | chr2:179456142;179456141;179456140 |
| N2B | 11039 | 33340;33341;33342 | chr2:178591415;178591414;178591413 | chr2:179456142;179456141;179456140 |
| Novex-1 | 11164 | 33715;33716;33717 | chr2:178591415;178591414;178591413 | chr2:179456142;179456141;179456140 |
| Novex-2 | 11231 | 33916;33917;33918 | chr2:178591415;178591414;178591413 | chr2:179456142;179456141;179456140 |
| 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/S | rs747671998  |
-0.895 | 1.0 | D | 0.841 | 0.649 | 0.640061320974 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.4E-05 | None | 0 | 0 | 0 |
| G/S | rs747671998 |
-0.895 | 1.0 | D | 0.841 | 0.649 | 0.640061320974 | gnomAD-4.0.0 | 1.3727E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17272E-05 | 1.66218E-05 |
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 | 0.8306 | likely_pathogenic | 0.9236 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.565554434 | None | None | I |
| G/C | 0.9807 | likely_pathogenic | 0.9911 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.648133611 | None | None | I |
| G/D | 0.9953 | likely_pathogenic | 0.9968 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.63067126 | None | None | I |
| G/E | 0.9973 | likely_pathogenic | 0.9985 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/F | 0.9985 | likely_pathogenic | 0.9991 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/H | 0.9993 | likely_pathogenic | 0.9997 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| G/I | 0.9973 | likely_pathogenic | 0.9986 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/K | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/L | 0.9974 | likely_pathogenic | 0.9987 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/M | 0.9984 | likely_pathogenic | 0.9992 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| G/N | 0.9979 | likely_pathogenic | 0.9988 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| G/Q | 0.9986 | likely_pathogenic | 0.9993 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/R | 0.9971 | likely_pathogenic | 0.9984 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.647730003 | None | None | I |
| G/S | 0.9293 | likely_pathogenic | 0.9702 | pathogenic | -0.814 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.574224889 | None | None | I |
| G/T | 0.9911 | likely_pathogenic | 0.9959 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/V | 0.9921 | likely_pathogenic | 0.9961 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.631478477 | None | None | I |
| G/W | 0.9977 | likely_pathogenic | 0.9986 | pathogenic | -1.146 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9982 | likely_pathogenic | 0.999 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.781 | 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.