Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27426 | 82501;82502;82503 | chr2:178563856;178563855;178563854 | chr2:179428583;179428582;179428581 |
| N2AB | 25785 | 77578;77579;77580 | chr2:178563856;178563855;178563854 | chr2:179428583;179428582;179428581 |
| N2A | 24858 | 74797;74798;74799 | chr2:178563856;178563855;178563854 | chr2:179428583;179428582;179428581 |
| N2B | 18361 | 55306;55307;55308 | chr2:178563856;178563855;178563854 | chr2:179428583;179428582;179428581 |
| Novex-1 | 18486 | 55681;55682;55683 | chr2:178563856;178563855;178563854 | chr2:179428583;179428582;179428581 |
| Novex-2 | 18553 | 55882;55883;55884 | chr2:178563856;178563855;178563854 | chr2:179428583;179428582;179428581 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs774473418  |
-1.459 | 0.967 | N | 0.675 | 0.47 | 0.555788435936 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| A/G | None | None | 0.805 | N | 0.401 | 0.351 | 0.388174495139 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | None | None | 0.805 | N | 0.401 | 0.351 | 0.388174495139 | gnomAD-4.0.0 | 6.57471E-06 | None | None | None | None | N | None | 0 | 6.55738E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs774473418 |
-0.02 | 0.892 | N | 0.453 | 0.324 | 0.44153150616 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 9.28E-05 | 8.89E-06 | 0 |
| A/V | rs774473418 |
-0.02 | 0.892 | N | 0.453 | 0.324 | 0.44153150616 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.41E-05 | 0 | 0 | 0 | 0 |
| A/V | rs774473418 |
-0.02 | 0.892 | N | 0.453 | 0.324 | 0.44153150616 | gnomAD-4.0.0 | 1.40937E-05 | None | None | None | None | N | None | 0 | 5.08595E-05 | None | 0 | 0 | None | 1.09811E-04 | 0 | 2.3932E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.474 | ambiguous | 0.4478 | ambiguous | -0.576 | Destabilizing | 0.999 | D | 0.647 | neutral | None | None | None | None | N |
| A/D | 0.3708 | ambiguous | 0.3526 | ambiguous | -1.267 | Destabilizing | 0.967 | D | 0.675 | neutral | N | 0.45903064 | None | None | N |
| A/E | 0.3708 | ambiguous | 0.3465 | ambiguous | -1.185 | Destabilizing | 0.975 | D | 0.619 | neutral | None | None | None | None | N |
| A/F | 0.3718 | ambiguous | 0.3715 | ambiguous | -0.759 | Destabilizing | 0.987 | D | 0.713 | prob.delet. | None | None | None | None | N |
| A/G | 0.1317 | likely_benign | 0.1299 | benign | -1.091 | Destabilizing | 0.805 | D | 0.401 | neutral | N | 0.434865701 | None | None | N |
| A/H | 0.5253 | ambiguous | 0.5128 | ambiguous | -1.077 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| A/I | 0.2613 | likely_benign | 0.2568 | benign | -0.021 | Destabilizing | 0.975 | D | 0.7 | prob.neutral | None | None | None | None | N |
| A/K | 0.5577 | ambiguous | 0.5354 | ambiguous | -0.856 | Destabilizing | 0.975 | D | 0.62 | neutral | None | None | None | None | N |
| A/L | 0.1981 | likely_benign | 0.1883 | benign | -0.021 | Destabilizing | 0.916 | D | 0.525 | neutral | None | None | None | None | N |
| A/M | 0.2199 | likely_benign | 0.2145 | benign | -0.159 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| A/N | 0.2352 | likely_benign | 0.2238 | benign | -0.874 | Destabilizing | 0.975 | D | 0.689 | prob.neutral | None | None | None | None | N |
| A/P | 0.4061 | ambiguous | 0.4224 | ambiguous | -0.234 | Destabilizing | 0.983 | D | 0.712 | prob.delet. | N | 0.499183752 | None | None | N |
| A/Q | 0.4077 | ambiguous | 0.3821 | ambiguous | -0.878 | Destabilizing | 0.975 | D | 0.71 | prob.delet. | None | None | None | None | N |
| A/R | 0.5426 | ambiguous | 0.5193 | ambiguous | -0.686 | Destabilizing | 0.975 | D | 0.707 | prob.neutral | None | None | None | None | N |
| A/S | 0.0968 | likely_benign | 0.0939 | benign | -1.224 | Destabilizing | 0.099 | N | 0.263 | neutral | N | 0.451621878 | None | None | N |
| A/T | 0.091 | likely_benign | 0.0897 | benign | -1.027 | Destabilizing | 0.204 | N | 0.233 | neutral | N | 0.417255802 | None | None | N |
| A/V | 0.1329 | likely_benign | 0.1298 | benign | -0.234 | Destabilizing | 0.892 | D | 0.453 | neutral | N | 0.469554278 | None | None | N |
| A/W | 0.7754 | likely_pathogenic | 0.7696 | pathogenic | -1.212 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| A/Y | 0.4926 | ambiguous | 0.4785 | ambiguous | -0.69 | Destabilizing | 0.996 | D | 0.713 | prob.delet. | 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.