Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14347 | 43264;43265;43266 | chr2:178633234;178633233;178633232 | chr2:179497961;179497960;179497959 |
| N2AB | 12706 | 38341;38342;38343 | chr2:178633234;178633233;178633232 | chr2:179497961;179497960;179497959 |
| N2A | 11779 | 35560;35561;35562 | chr2:178633234;178633233;178633232 | chr2:179497961;179497960;179497959 |
| N2B | 5282 | 16069;16070;16071 | chr2:178633234;178633233;178633232 | chr2:179497961;179497960;179497959 |
| Novex-1 | 5407 | 16444;16445;16446 | chr2:178633234;178633233;178633232 | chr2:179497961;179497960;179497959 |
| Novex-2 | 5474 | 16645;16646;16647 | chr2:178633234;178633233;178633232 | chr2:179497961;179497960;179497959 |
| 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/A | rs747933690  |
-1.561 | 0.997 | N | 0.556 | 0.306 | 0.425615883737 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| V/A | rs747933690 |
-1.561 | 0.997 | N | 0.556 | 0.306 | 0.425615883737 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs747933690 |
-1.561 | 0.997 | N | 0.556 | 0.306 | 0.425615883737 | gnomAD-4.0.0 | 2.47967E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39132E-06 | 0 | 0 |
| V/I | rs1009268757 |
-0.575 | 0.994 | N | 0.599 | 0.293 | 0.428516003163 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14784E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs1009268757 |
-0.575 | 0.994 | N | 0.599 | 0.293 | 0.428516003163 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1009268757 |
-0.575 | 0.994 | N | 0.599 | 0.293 | 0.428516003163 | gnomAD-4.0.0 | 2.03006E-06 | None | None | None | None | N | None | 1.74782E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.20497E-06 | 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 | 0.6904 | likely_pathogenic | 0.5863 | pathogenic | -1.585 | Destabilizing | 0.997 | D | 0.556 | neutral | N | 0.430146746 | None | None | N |
| V/C | 0.9341 | likely_pathogenic | 0.9181 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| V/D | 0.9502 | likely_pathogenic | 0.9178 | pathogenic | -1.617 | Destabilizing | 0.999 | D | 0.763 | deleterious | D | 0.590141487 | None | None | N |
| V/E | 0.8869 | likely_pathogenic | 0.8339 | pathogenic | -1.611 | Destabilizing | 0.999 | D | 0.722 | deleterious | None | None | None | None | N |
| V/F | 0.6171 | likely_pathogenic | 0.5362 | ambiguous | -1.266 | Destabilizing | 0.999 | D | 0.708 | prob.delet. | D | 0.588073853 | None | None | N |
| V/G | 0.8141 | likely_pathogenic | 0.7452 | pathogenic | -1.907 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | D | 0.526493315 | None | None | N |
| V/H | 0.9711 | likely_pathogenic | 0.9499 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.735 | deleterious | None | None | None | None | N |
| V/I | 0.1028 | likely_benign | 0.0929 | benign | -0.78 | Destabilizing | 0.994 | D | 0.599 | neutral | N | 0.43516344 | None | None | N |
| V/K | 0.9173 | likely_pathogenic | 0.8722 | pathogenic | -1.308 | Destabilizing | 0.999 | D | 0.721 | deleterious | None | None | None | None | N |
| V/L | 0.6585 | likely_pathogenic | 0.5817 | pathogenic | -0.78 | Destabilizing | 0.994 | D | 0.6 | neutral | N | 0.521127867 | None | None | N |
| V/M | 0.5467 | ambiguous | 0.4514 | ambiguous | -0.442 | Destabilizing | 0.999 | D | 0.724 | deleterious | None | None | None | None | N |
| V/N | 0.8943 | likely_pathogenic | 0.831 | pathogenic | -0.957 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| V/P | 0.9799 | likely_pathogenic | 0.9668 | pathogenic | -1.017 | Destabilizing | 0.999 | D | 0.734 | deleterious | None | None | None | None | N |
| V/Q | 0.8971 | likely_pathogenic | 0.8387 | pathogenic | -1.123 | Destabilizing | 0.999 | D | 0.748 | deleterious | None | None | None | None | N |
| V/R | 0.8716 | likely_pathogenic | 0.818 | pathogenic | -0.811 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | N |
| V/S | 0.8005 | likely_pathogenic | 0.7125 | pathogenic | -1.387 | Destabilizing | 0.999 | D | 0.729 | deleterious | None | None | None | None | N |
| V/T | 0.6487 | likely_pathogenic | 0.5405 | ambiguous | -1.281 | Destabilizing | 0.998 | D | 0.705 | prob.delet. | None | None | None | None | N |
| V/W | 0.9889 | likely_pathogenic | 0.9824 | pathogenic | -1.506 | Destabilizing | 1.0 | D | 0.736 | deleterious | None | None | None | None | N |
| V/Y | 0.9438 | likely_pathogenic | 0.9131 | pathogenic | -1.236 | Destabilizing | 0.999 | D | 0.74 | 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.