Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34950 | 105073;105074;105075 | chr2:178531767;178531766;178531765 | chr2:179396494;179396493;179396492 |
| N2AB | 33309 | 100150;100151;100152 | chr2:178531767;178531766;178531765 | chr2:179396494;179396493;179396492 |
| N2A | 32382 | 97369;97370;97371 | chr2:178531767;178531766;178531765 | chr2:179396494;179396493;179396492 |
| N2B | 25885 | 77878;77879;77880 | chr2:178531767;178531766;178531765 | chr2:179396494;179396493;179396492 |
| Novex-1 | 26010 | 78253;78254;78255 | chr2:178531767;178531766;178531765 | chr2:179396494;179396493;179396492 |
| Novex-2 | 26077 | 78454;78455;78456 | chr2:178531767;178531766;178531765 | chr2:179396494;179396493;179396492 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs762789368  |
0.006 | 1.0 | N | 0.71 | 0.449 | 0.534140917371 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 4.13E-05 | 5.65E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/L | rs762789368 |
0.006 | 1.0 | N | 0.71 | 0.449 | 0.534140917371 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 1.30856E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | rs762789368 |
0.006 | 1.0 | N | 0.71 | 0.449 | 0.534140917371 | gnomAD-4.0.0 | 6.4043E-06 | None | None | None | None | N | None | 1.69119E-05 | 6.77736E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.6007 | likely_pathogenic | 0.5941 | pathogenic | -0.495 | Destabilizing | 0.997 | D | 0.438 | neutral | N | 0.513083264 | None | None | N |
| S/C | 0.7782 | likely_pathogenic | 0.7865 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| S/D | 0.9559 | likely_pathogenic | 0.954 | pathogenic | -0.079 | Destabilizing | 0.999 | D | 0.642 | neutral | None | None | None | None | N |
| S/E | 0.9859 | likely_pathogenic | 0.9852 | pathogenic | -0.109 | Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | N |
| S/F | 0.9758 | likely_pathogenic | 0.9748 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| S/G | 0.6083 | likely_pathogenic | 0.6078 | pathogenic | -0.715 | Destabilizing | 0.999 | D | 0.509 | neutral | None | None | None | None | N |
| S/H | 0.9484 | likely_pathogenic | 0.9475 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| S/I | 0.971 | likely_pathogenic | 0.969 | pathogenic | -0.029 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| S/K | 0.9966 | likely_pathogenic | 0.9963 | pathogenic | -0.67 | Destabilizing | 0.999 | D | 0.629 | neutral | None | None | None | None | N |
| S/L | 0.9227 | likely_pathogenic | 0.9145 | pathogenic | -0.029 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.461251976 | None | None | N |
| S/M | 0.9453 | likely_pathogenic | 0.9405 | pathogenic | 0.154 | Stabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| S/N | 0.7471 | likely_pathogenic | 0.7323 | pathogenic | -0.465 | Destabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | N |
| S/P | 0.9181 | likely_pathogenic | 0.9333 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.82 | deleterious | N | 0.46103829 | None | None | N |
| S/Q | 0.9787 | likely_pathogenic | 0.9769 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| S/R | 0.9937 | likely_pathogenic | 0.9939 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| S/T | 0.5493 | ambiguous | 0.5292 | ambiguous | -0.475 | Destabilizing | 0.999 | D | 0.491 | neutral | N | 0.454388668 | None | None | N |
| S/V | 0.9625 | likely_pathogenic | 0.9604 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| S/W | 0.9667 | likely_pathogenic | 0.9667 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.488345906 | None | None | N |
| S/Y | 0.9379 | likely_pathogenic | 0.935 | pathogenic | -0.536 | Destabilizing | 1.0 | D | 0.808 | 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.