Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28905 | 86938;86939;86940 | chr2:178559419;178559418;178559417 | chr2:179424146;179424145;179424144 |
| N2AB | 27264 | 82015;82016;82017 | chr2:178559419;178559418;178559417 | chr2:179424146;179424145;179424144 |
| N2A | 26337 | 79234;79235;79236 | chr2:178559419;178559418;178559417 | chr2:179424146;179424145;179424144 |
| N2B | 19840 | 59743;59744;59745 | chr2:178559419;178559418;178559417 | chr2:179424146;179424145;179424144 |
| Novex-1 | 19965 | 60118;60119;60120 | chr2:178559419;178559418;178559417 | chr2:179424146;179424145;179424144 |
| Novex-2 | 20032 | 60319;60320;60321 | chr2:178559419;178559418;178559417 | chr2:179424146;179424145;179424144 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | None | None | 0.308 | N | 0.325 | 0.098 | 0.148003135375 | gnomAD-4.0.0 | 1.59147E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85894E-06 | 0 | 0 |
| K/R | rs764838711  |
-0.011 | 0.919 | N | 0.527 | 0.216 | 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 |
| K/R | rs764838711 |
-0.011 | 0.919 | N | 0.527 | 0.216 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs764838711 |
-0.011 | 0.919 | N | 0.527 | 0.216 | None | gnomAD-4.0.0 | 2.56248E-06 | None | None | None | None | N | None | 1.69147E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39354E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.578 | likely_pathogenic | 0.4973 | ambiguous | -0.501 | Destabilizing | 0.988 | D | 0.635 | neutral | None | None | None | None | N |
| K/C | 0.7181 | likely_pathogenic | 0.6846 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| K/D | 0.8476 | likely_pathogenic | 0.7978 | pathogenic | 0.315 | Stabilizing | 0.993 | D | 0.699 | prob.neutral | None | None | None | None | N |
| K/E | 0.4068 | ambiguous | 0.3324 | benign | 0.397 | Stabilizing | 0.949 | D | 0.512 | neutral | N | 0.485502379 | None | None | N |
| K/F | 0.8808 | likely_pathogenic | 0.8548 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| K/G | 0.7595 | likely_pathogenic | 0.6895 | pathogenic | -0.804 | Destabilizing | 0.976 | D | 0.641 | neutral | None | None | None | None | N |
| K/H | 0.3348 | likely_benign | 0.308 | benign | -1.045 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| K/I | 0.487 | ambiguous | 0.4357 | ambiguous | 0.254 | Stabilizing | 0.928 | D | 0.735 | prob.delet. | N | 0.518345516 | None | None | N |
| K/L | 0.5162 | ambiguous | 0.4648 | ambiguous | 0.254 | Stabilizing | 0.945 | D | 0.68 | prob.neutral | None | None | None | None | N |
| K/M | 0.3736 | ambiguous | 0.3277 | benign | 0.074 | Stabilizing | 0.999 | D | 0.719 | prob.delet. | None | None | None | None | N |
| K/N | 0.7255 | likely_pathogenic | 0.6545 | pathogenic | -0.205 | Destabilizing | 0.308 | N | 0.325 | neutral | N | 0.477133612 | None | None | N |
| K/P | 0.8461 | likely_pathogenic | 0.7896 | pathogenic | 0.032 | Stabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| K/Q | 0.1945 | likely_benign | 0.172 | benign | -0.298 | Destabilizing | 0.963 | D | 0.613 | neutral | N | 0.499490396 | None | None | N |
| K/R | 0.0752 | likely_benign | 0.0735 | benign | -0.299 | Destabilizing | 0.919 | D | 0.527 | neutral | N | 0.478827122 | None | None | N |
| K/S | 0.6568 | likely_pathogenic | 0.588 | pathogenic | -0.911 | Destabilizing | 0.976 | D | 0.534 | neutral | None | None | None | None | N |
| K/T | 0.2649 | likely_benign | 0.2179 | benign | -0.631 | Destabilizing | 0.985 | D | 0.727 | prob.delet. | N | 0.418503809 | None | None | N |
| K/V | 0.4249 | ambiguous | 0.3815 | ambiguous | 0.032 | Stabilizing | 0.957 | D | 0.731 | prob.delet. | None | None | None | None | N |
| K/W | 0.8144 | likely_pathogenic | 0.7884 | pathogenic | -0.275 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| K/Y | 0.7495 | likely_pathogenic | 0.7147 | pathogenic | 0.03 | Stabilizing | 0.988 | D | 0.744 | 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.