Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 998 | 3217;3218;3219 | chr2:178782914;178782913;178782912 | chr2:179647641;179647640;179647639 |
| N2AB | 998 | 3217;3218;3219 | chr2:178782914;178782913;178782912 | chr2:179647641;179647640;179647639 |
| N2A | 998 | 3217;3218;3219 | chr2:178782914;178782913;178782912 | chr2:179647641;179647640;179647639 |
| N2B | 952 | 3079;3080;3081 | chr2:178782914;178782913;178782912 | chr2:179647641;179647640;179647639 |
| Novex-1 | 952 | 3079;3080;3081 | chr2:178782914;178782913;178782912 | chr2:179647641;179647640;179647639 |
| Novex-2 | 952 | 3079;3080;3081 | chr2:178782914;178782913;178782912 | chr2:179647641;179647640;179647639 |
| Novex-3 | 998 | 3217;3218;3219 | chr2:178782914;178782913;178782912 | chr2:179647641;179647640;179647639 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs776232888  |
-1.798 | 0.989 | N | 0.652 | 0.401 | 0.380052290102 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 1.23077E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs776232888 |
-1.798 | 0.989 | N | 0.652 | 0.401 | 0.380052290102 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 1.44816E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs776232888 |
-1.798 | 0.989 | N | 0.652 | 0.401 | 0.380052290102 | gnomAD-4.0.0 | 6.8149E-06 | None | None | None | None | N | None | 1.33276E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09794E-05 | 0 |
| A/P | None | None | 0.999 | N | 0.868 | 0.533 | 0.491660673884 | gnomAD-4.0.0 | 6.84076E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.7337E-04 | 0 | 0 | 0 |
| A/S | None | None | 0.989 | N | 0.663 | 0.368 | 0.316494231283 | gnomAD-4.0.0 | 2.05223E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69791E-06 | 0 | 0 |
| A/V | rs776232888 |
0.138 | 0.235 | N | 0.481 | 0.366 | 0.427713192076 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.63452E-04 |
| A/V | rs776232888 |
0.138 | 0.235 | N | 0.481 | 0.366 | 0.427713192076 | gnomAD-4.0.0 | 1.36816E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 1.65585E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8572 | likely_pathogenic | 0.8826 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/D | 0.9969 | likely_pathogenic | 0.9979 | pathogenic | -2.537 | Highly Destabilizing | 0.999 | D | 0.875 | deleterious | N | 0.506227387 | None | None | N |
| A/E | 0.9935 | likely_pathogenic | 0.9949 | pathogenic | -2.291 | Highly Destabilizing | 0.998 | D | 0.831 | deleterious | None | None | None | None | N |
| A/F | 0.9666 | likely_pathogenic | 0.9716 | pathogenic | -0.64 | Destabilizing | 0.998 | D | 0.891 | deleterious | None | None | None | None | N |
| A/G | 0.5256 | ambiguous | 0.5613 | ambiguous | -1.708 | Destabilizing | 0.989 | D | 0.652 | neutral | N | 0.428860448 | None | None | N |
| A/H | 0.9928 | likely_pathogenic | 0.9943 | pathogenic | -2.193 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/I | 0.9566 | likely_pathogenic | 0.9634 | pathogenic | 0.145 | Stabilizing | 0.966 | D | 0.768 | deleterious | None | None | None | None | N |
| A/K | 0.998 | likely_pathogenic | 0.9984 | pathogenic | -1.102 | Destabilizing | 0.998 | D | 0.842 | deleterious | None | None | None | None | N |
| A/L | 0.8521 | likely_pathogenic | 0.8762 | pathogenic | 0.145 | Stabilizing | 0.966 | D | 0.678 | prob.neutral | None | None | None | None | N |
| A/M | 0.9442 | likely_pathogenic | 0.9535 | pathogenic | -0.132 | Destabilizing | 0.999 | D | 0.878 | deleterious | None | None | None | None | N |
| A/N | 0.9918 | likely_pathogenic | 0.9937 | pathogenic | -1.529 | Destabilizing | 0.999 | D | 0.892 | deleterious | None | None | None | None | N |
| A/P | 0.9824 | likely_pathogenic | 0.9891 | pathogenic | -0.271 | Destabilizing | 0.999 | D | 0.868 | deleterious | N | 0.504275209 | None | None | N |
| A/Q | 0.9843 | likely_pathogenic | 0.9869 | pathogenic | -1.236 | Destabilizing | 0.999 | D | 0.884 | deleterious | None | None | None | None | N |
| A/R | 0.9902 | likely_pathogenic | 0.9928 | pathogenic | -1.322 | Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
| A/S | 0.424 | ambiguous | 0.4608 | ambiguous | -1.881 | Destabilizing | 0.989 | D | 0.663 | neutral | N | 0.438962674 | None | None | N |
| A/T | 0.7364 | likely_pathogenic | 0.7773 | pathogenic | -1.518 | Destabilizing | 0.977 | D | 0.714 | prob.delet. | N | 0.471535028 | None | None | N |
| A/V | 0.798 | likely_pathogenic | 0.8322 | pathogenic | -0.271 | Destabilizing | 0.235 | N | 0.481 | neutral | N | 0.458053847 | None | None | N |
| A/W | 0.9971 | likely_pathogenic | 0.9979 | pathogenic | -1.511 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/Y | 0.9879 | likely_pathogenic | 0.9897 | pathogenic | -0.978 | Destabilizing | 0.999 | D | 0.89 | 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.