Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26208 | 78847;78848;78849 | chr2:178567510;178567509;178567508 | chr2:179432237;179432236;179432235 |
| N2AB | 24567 | 73924;73925;73926 | chr2:178567510;178567509;178567508 | chr2:179432237;179432236;179432235 |
| N2A | 23640 | 71143;71144;71145 | chr2:178567510;178567509;178567508 | chr2:179432237;179432236;179432235 |
| N2B | 17143 | 51652;51653;51654 | chr2:178567510;178567509;178567508 | chr2:179432237;179432236;179432235 |
| Novex-1 | 17268 | 52027;52028;52029 | chr2:178567510;178567509;178567508 | chr2:179432237;179432236;179432235 |
| Novex-2 | 17335 | 52228;52229;52230 | chr2:178567510;178567509;178567508 | chr2:179432237;179432236;179432235 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs778591122  |
-1.025 | 1.0 | D | 0.837 | 0.831 | 0.834138542939 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs778591122 |
-1.025 | 1.0 | D | 0.837 | 0.831 | 0.834138542939 | gnomAD-4.0.0 | 1.59403E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.7804E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.855 | 0.862 | 0.885076543134 | gnomAD-4.0.0 | 1.59412E-06 | None | None | None | None | I | None | 5.67215E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6287 | likely_pathogenic | 0.6647 | pathogenic | -0.339 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.596662703 | None | None | I |
| G/C | 0.7564 | likely_pathogenic | 0.7904 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/D | 0.6811 | likely_pathogenic | 0.8141 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/E | 0.7664 | likely_pathogenic | 0.8555 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.600125531 | None | None | I |
| G/F | 0.9682 | likely_pathogenic | 0.9741 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/H | 0.8562 | likely_pathogenic | 0.8917 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/I | 0.9746 | likely_pathogenic | 0.9801 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/K | 0.8223 | likely_pathogenic | 0.8644 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/L | 0.9219 | likely_pathogenic | 0.9352 | pathogenic | -0.538 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/M | 0.939 | likely_pathogenic | 0.9512 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/N | 0.6297 | likely_pathogenic | 0.7339 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/P | 0.9942 | likely_pathogenic | 0.9944 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/Q | 0.7725 | likely_pathogenic | 0.8238 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/R | 0.7271 | likely_pathogenic | 0.7669 | pathogenic | -0.271 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.645154755 | None | None | I |
| G/S | 0.3599 | ambiguous | 0.4259 | ambiguous | -0.527 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/T | 0.7711 | likely_pathogenic | 0.8086 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/V | 0.9368 | likely_pathogenic | 0.9464 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.66137592 | None | None | I |
| G/W | 0.9243 | likely_pathogenic | 0.9285 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/Y | 0.9376 | likely_pathogenic | 0.9523 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.818 | 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.