Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19414 | 58465;58466;58467 | chr2:178594153;178594152;178594151 | chr2:179458880;179458879;179458878 |
| N2AB | 17773 | 53542;53543;53544 | chr2:178594153;178594152;178594151 | chr2:179458880;179458879;179458878 |
| N2A | 16846 | 50761;50762;50763 | chr2:178594153;178594152;178594151 | chr2:179458880;179458879;179458878 |
| N2B | 10349 | 31270;31271;31272 | chr2:178594153;178594152;178594151 | chr2:179458880;179458879;179458878 |
| Novex-1 | 10474 | 31645;31646;31647 | chr2:178594153;178594152;178594151 | chr2:179458880;179458879;179458878 |
| Novex-2 | 10541 | 31846;31847;31848 | chr2:178594153;178594152;178594151 | chr2:179458880;179458879;179458878 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/Q | rs878901352  |
-0.45 | 1.0 | D | 0.795 | 0.57 | None | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | I | None | 2.06663E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/Q | rs878901352 |
-0.45 | 1.0 | D | 0.795 | 0.57 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | I | None | 1.20645E-04 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/Q | rs878901352 |
-0.45 | 1.0 | D | 0.795 | 0.57 | None | gnomAD-4.0.0 | 8.67809E-06 | None | None | None | None | I | None | 1.60205E-04 | 1.66856E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60149E-05 |
| P/S | None | None | 1.0 | D | 0.773 | 0.575 | 0.713342169113 | gnomAD-4.0.0 | 6.84377E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99575E-07 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.768 | 0.57 | 0.850758466603 | gnomAD-4.0.0 | 1.36875E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79915E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9615 | likely_pathogenic | 0.9733 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.541376625 | None | None | I |
| P/C | 0.9958 | likely_pathogenic | 0.9973 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| P/D | 0.9868 | likely_pathogenic | 0.9915 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| P/E | 0.9838 | likely_pathogenic | 0.9896 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| P/F | 0.9981 | likely_pathogenic | 0.9986 | pathogenic | -0.845 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| P/G | 0.98 | likely_pathogenic | 0.9857 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| P/H | 0.9895 | likely_pathogenic | 0.9928 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| P/I | 0.9795 | likely_pathogenic | 0.9848 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| P/K | 0.9892 | likely_pathogenic | 0.9927 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| P/L | 0.9587 | likely_pathogenic | 0.9693 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.624779652 | None | None | I |
| P/M | 0.9858 | likely_pathogenic | 0.9894 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| P/N | 0.9879 | likely_pathogenic | 0.9919 | pathogenic | -0.204 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| P/Q | 0.9847 | likely_pathogenic | 0.9894 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.56425382 | None | None | I |
| P/R | 0.9802 | likely_pathogenic | 0.9861 | pathogenic | 0.06 | Stabilizing | 1.0 | D | 0.822 | deleterious | D | 0.624376043 | None | None | I |
| P/S | 0.9894 | likely_pathogenic | 0.9928 | pathogenic | -0.55 | Destabilizing | 1.0 | D | 0.773 | deleterious | D | 0.563746841 | None | None | I |
| P/T | 0.9653 | likely_pathogenic | 0.9759 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.624376043 | None | None | I |
| P/V | 0.9595 | likely_pathogenic | 0.9705 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| P/W | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| P/Y | 0.9953 | likely_pathogenic | 0.9966 | pathogenic | -0.618 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
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.