Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20662 | 62209;62210;62211 | chr2:178589741;178589740;178589739 | chr2:179454468;179454467;179454466 |
| N2AB | 19021 | 57286;57287;57288 | chr2:178589741;178589740;178589739 | chr2:179454468;179454467;179454466 |
| N2A | 18094 | 54505;54506;54507 | chr2:178589741;178589740;178589739 | chr2:179454468;179454467;179454466 |
| N2B | 11597 | 35014;35015;35016 | chr2:178589741;178589740;178589739 | chr2:179454468;179454467;179454466 |
| Novex-1 | 11722 | 35389;35390;35391 | chr2:178589741;178589740;178589739 | chr2:179454468;179454467;179454466 |
| Novex-2 | 11789 | 35590;35591;35592 | chr2:178589741;178589740;178589739 | chr2:179454468;179454467;179454466 |
| 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/P | None | None | 1.0 | N | 0.748 | 0.45 | 0.525716358561 | gnomAD-4.0.0 | 1.59175E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77531E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs760241038  |
-0.452 | 0.999 | N | 0.651 | 0.321 | 0.469742815239 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/V | rs760241038 |
-0.452 | 0.999 | N | 0.651 | 0.321 | 0.469742815239 | gnomAD-4.0.0 | 1.59176E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43291E-05 | 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 | 0.8805 | likely_pathogenic | 0.8054 | pathogenic | -1.69 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/D | 0.9986 | likely_pathogenic | 0.998 | pathogenic | -2.693 | Highly Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.506777146 | None | None | N |
| A/E | 0.9969 | likely_pathogenic | 0.9956 | pathogenic | -2.52 | Highly Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| A/F | 0.9867 | likely_pathogenic | 0.9835 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/G | 0.698 | likely_pathogenic | 0.6054 | pathogenic | -1.766 | Destabilizing | 0.999 | D | 0.545 | neutral | N | 0.479518632 | None | None | N |
| A/H | 0.9978 | likely_pathogenic | 0.9963 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/I | 0.9495 | likely_pathogenic | 0.9135 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| A/K | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| A/L | 0.8562 | likely_pathogenic | 0.8405 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| A/M | 0.9534 | likely_pathogenic | 0.9421 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/N | 0.9929 | likely_pathogenic | 0.9879 | pathogenic | -1.664 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| A/P | 0.9654 | likely_pathogenic | 0.9488 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.748 | deleterious | N | 0.480025611 | None | None | N |
| A/Q | 0.992 | likely_pathogenic | 0.9898 | pathogenic | -1.537 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| A/R | 0.9959 | likely_pathogenic | 0.9943 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/S | 0.5596 | ambiguous | 0.4421 | ambiguous | -2.043 | Highly Destabilizing | 0.999 | D | 0.584 | neutral | N | 0.482885993 | None | None | N |
| A/T | 0.9125 | likely_pathogenic | 0.831 | pathogenic | -1.757 | Destabilizing | 1.0 | D | 0.726 | deleterious | N | 0.509549887 | None | None | N |
| A/V | 0.8539 | likely_pathogenic | 0.7737 | pathogenic | -0.579 | Destabilizing | 0.999 | D | 0.651 | prob.neutral | N | 0.497004665 | None | None | N |
| A/W | 0.9991 | likely_pathogenic | 0.9987 | pathogenic | -1.555 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/Y | 0.9958 | likely_pathogenic | 0.994 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.791 | 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.