Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22973 | 69142;69143;69144 | chr2:178577418;178577417;178577416 | chr2:179442145;179442144;179442143 |
| N2AB | 21332 | 64219;64220;64221 | chr2:178577418;178577417;178577416 | chr2:179442145;179442144;179442143 |
| N2A | 20405 | 61438;61439;61440 | chr2:178577418;178577417;178577416 | chr2:179442145;179442144;179442143 |
| N2B | 13908 | 41947;41948;41949 | chr2:178577418;178577417;178577416 | chr2:179442145;179442144;179442143 |
| Novex-1 | 14033 | 42322;42323;42324 | chr2:178577418;178577417;178577416 | chr2:179442145;179442144;179442143 |
| Novex-2 | 14100 | 42523;42524;42525 | chr2:178577418;178577417;178577416 | chr2:179442145;179442144;179442143 |
| 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 | None | None | 1.0 | D | 0.812 | 0.801 | 0.554356711338 | gnomAD-4.0.0 | 3.18959E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86252E-06 | 1.43369E-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 | 0.9328 | likely_pathogenic | 0.9362 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.559982483 | None | None | N |
| G/C | 0.9874 | likely_pathogenic | 0.9886 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | D | 0.649758764 | None | None | N |
| G/D | 0.9957 | likely_pathogenic | 0.9959 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.648547938 | None | None | N |
| G/E | 0.9965 | likely_pathogenic | 0.9966 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/F | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| G/H | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| G/I | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/K | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/L | 0.9973 | likely_pathogenic | 0.9975 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/M | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| G/N | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/P | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/Q | 0.998 | likely_pathogenic | 0.998 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| G/R | 0.9959 | likely_pathogenic | 0.9959 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.649355155 | None | None | N |
| G/S | 0.9571 | likely_pathogenic | 0.9608 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.574921383 | None | None | N |
| G/T | 0.9951 | likely_pathogenic | 0.9953 | pathogenic | -0.88 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/V | 0.9948 | likely_pathogenic | 0.9952 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.633335794 | None | None | N |
| G/W | 0.9968 | likely_pathogenic | 0.997 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/Y | 0.9983 | likely_pathogenic | 0.9983 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.749 | 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.