Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28854 | 86785;86786;86787 | chr2:178559572;178559571;178559570 | chr2:179424299;179424298;179424297 |
| N2AB | 27213 | 81862;81863;81864 | chr2:178559572;178559571;178559570 | chr2:179424299;179424298;179424297 |
| N2A | 26286 | 79081;79082;79083 | chr2:178559572;178559571;178559570 | chr2:179424299;179424298;179424297 |
| N2B | 19789 | 59590;59591;59592 | chr2:178559572;178559571;178559570 | chr2:179424299;179424298;179424297 |
| Novex-1 | 19914 | 59965;59966;59967 | chr2:178559572;178559571;178559570 | chr2:179424299;179424298;179424297 |
| Novex-2 | 19981 | 60166;60167;60168 | chr2:178559572;178559571;178559570 | chr2:179424299;179424298;179424297 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | None | None | 0.988 | N | 0.781 | 0.417 | 0.822408846329 | gnomAD-4.0.0 | 3.18255E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85843E-06 | 1.43303E-05 | 0 |
| V/M | rs769060885  |
-0.598 | 0.985 | N | 0.635 | 0.416 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/M | rs769060885 |
-0.598 | 0.985 | N | 0.635 | 0.416 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs769060885 |
-0.598 | 0.985 | N | 0.635 | 0.416 | None | gnomAD-4.0.0 | 6.40544E-06 | None | None | None | None | N | None | 8.45594E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2 | likely_benign | 0.2106 | benign | -1.475 | Destabilizing | 0.586 | D | 0.541 | neutral | N | 0.512382336 | None | None | N |
| V/C | 0.6386 | likely_pathogenic | 0.659 | pathogenic | -1.197 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| V/D | 0.8759 | likely_pathogenic | 0.877 | pathogenic | -0.763 | Destabilizing | 0.987 | D | 0.81 | deleterious | None | None | None | None | N |
| V/E | 0.8096 | likely_pathogenic | 0.8027 | pathogenic | -0.679 | Destabilizing | 0.905 | D | 0.779 | deleterious | N | 0.50868752 | None | None | N |
| V/F | 0.2689 | likely_benign | 0.2481 | benign | -0.926 | Destabilizing | 0.992 | D | 0.751 | deleterious | None | None | None | None | N |
| V/G | 0.4378 | ambiguous | 0.4361 | ambiguous | -1.88 | Destabilizing | 0.988 | D | 0.781 | deleterious | N | 0.501090197 | None | None | N |
| V/H | 0.8552 | likely_pathogenic | 0.861 | pathogenic | -1.317 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| V/I | 0.0714 | likely_benign | 0.0706 | benign | -0.432 | Destabilizing | 0.019 | N | 0.339 | neutral | None | None | None | None | N |
| V/K | 0.813 | likely_pathogenic | 0.8207 | pathogenic | -1.085 | Destabilizing | 0.965 | D | 0.78 | deleterious | None | None | None | None | N |
| V/L | 0.2237 | likely_benign | 0.2134 | benign | -0.432 | Destabilizing | 0.18 | N | 0.444 | neutral | N | 0.521023249 | None | None | N |
| V/M | 0.1959 | likely_benign | 0.1847 | benign | -0.514 | Destabilizing | 0.985 | D | 0.635 | neutral | N | 0.512446502 | None | None | N |
| V/N | 0.6853 | likely_pathogenic | 0.704 | pathogenic | -1.029 | Destabilizing | 0.804 | D | 0.817 | deleterious | None | None | None | None | N |
| V/P | 0.6142 | likely_pathogenic | 0.6079 | pathogenic | -0.745 | Destabilizing | 0.893 | D | 0.789 | deleterious | None | None | None | None | N |
| V/Q | 0.7456 | likely_pathogenic | 0.7513 | pathogenic | -1.024 | Destabilizing | 0.976 | D | 0.795 | deleterious | None | None | None | None | N |
| V/R | 0.7651 | likely_pathogenic | 0.7664 | pathogenic | -0.787 | Destabilizing | 0.992 | D | 0.81 | deleterious | None | None | None | None | N |
| V/S | 0.3808 | ambiguous | 0.4081 | ambiguous | -1.735 | Destabilizing | 0.941 | D | 0.725 | prob.delet. | None | None | None | None | N |
| V/T | 0.2728 | likely_benign | 0.3101 | benign | -1.502 | Destabilizing | 0.047 | N | 0.346 | neutral | None | None | None | None | N |
| V/W | 0.8923 | likely_pathogenic | 0.8879 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| V/Y | 0.7233 | likely_pathogenic | 0.719 | pathogenic | -0.802 | Destabilizing | 0.997 | D | 0.753 | 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.