Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18351 | 55276;55277;55278 | chr2:178602351;178602350;178602349 | chr2:179467078;179467077;179467076 |
| N2AB | 16710 | 50353;50354;50355 | chr2:178602351;178602350;178602349 | chr2:179467078;179467077;179467076 |
| N2A | 15783 | 47572;47573;47574 | chr2:178602351;178602350;178602349 | chr2:179467078;179467077;179467076 |
| N2B | 9286 | 28081;28082;28083 | chr2:178602351;178602350;178602349 | chr2:179467078;179467077;179467076 |
| Novex-1 | 9411 | 28456;28457;28458 | chr2:178602351;178602350;178602349 | chr2:179467078;179467077;179467076 |
| Novex-2 | 9478 | 28657;28658;28659 | chr2:178602351;178602350;178602349 | chr2:179467078;179467077;179467076 |
| 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/G | rs948552885  |
-2.579 | 1.0 | D | 0.611 | 0.684 | 0.585534595853 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 1.13404E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs948552885 |
-2.579 | 1.0 | D | 0.611 | 0.684 | 0.585534595853 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs948552885 |
-2.579 | 1.0 | D | 0.611 | 0.684 | 0.585534595853 | gnomAD-4.0.0 | 6.41264E-06 | None | None | None | None | N | None | 0 | 6.78864E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84803E-05 |
| A/V | None | None | 1.0 | D | 0.674 | 0.663 | 0.614323175037 | gnomAD-4.0.0 | 1.59321E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88331E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9075 | likely_pathogenic | 0.929 | pathogenic | -1.887 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| A/D | 0.9935 | likely_pathogenic | 0.9914 | pathogenic | -3.054 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.564555038 | None | None | N |
| A/E | 0.9912 | likely_pathogenic | 0.9889 | pathogenic | -2.825 | Highly Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| A/F | 0.9905 | likely_pathogenic | 0.9884 | pathogenic | -0.866 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/G | 0.4422 | ambiguous | 0.4064 | ambiguous | -2.283 | Highly Destabilizing | 1.0 | D | 0.611 | neutral | D | 0.526483196 | None | None | N |
| A/H | 0.9968 | likely_pathogenic | 0.9956 | pathogenic | -2.19 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/I | 0.9591 | likely_pathogenic | 0.9734 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| A/K | 0.9983 | likely_pathogenic | 0.9977 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| A/L | 0.904 | likely_pathogenic | 0.9295 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| A/M | 0.9537 | likely_pathogenic | 0.9583 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/N | 0.9893 | likely_pathogenic | 0.9862 | pathogenic | -2.021 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/P | 0.9814 | likely_pathogenic | 0.9838 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.56354108 | None | None | N |
| A/Q | 0.9901 | likely_pathogenic | 0.9878 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| A/R | 0.9929 | likely_pathogenic | 0.9911 | pathogenic | -1.588 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| A/S | 0.4648 | ambiguous | 0.3948 | ambiguous | -2.393 | Highly Destabilizing | 1.0 | D | 0.611 | neutral | N | 0.519633114 | None | None | N |
| A/T | 0.8299 | likely_pathogenic | 0.8292 | pathogenic | -2.053 | Highly Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.533320051 | None | None | N |
| A/V | 0.79 | likely_pathogenic | 0.8485 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.674 | neutral | D | 0.523191513 | None | None | N |
| A/W | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -1.495 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/Y | 0.994 | likely_pathogenic | 0.992 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.805 | 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.