Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22961 | 69106;69107;69108 | chr2:178577454;178577453;178577452 | chr2:179442181;179442180;179442179 |
| N2AB | 21320 | 64183;64184;64185 | chr2:178577454;178577453;178577452 | chr2:179442181;179442180;179442179 |
| N2A | 20393 | 61402;61403;61404 | chr2:178577454;178577453;178577452 | chr2:179442181;179442180;179442179 |
| N2B | 13896 | 41911;41912;41913 | chr2:178577454;178577453;178577452 | chr2:179442181;179442180;179442179 |
| Novex-1 | 14021 | 42286;42287;42288 | chr2:178577454;178577453;178577452 | chr2:179442181;179442180;179442179 |
| Novex-2 | 14088 | 42487;42488;42489 | chr2:178577454;178577453;178577452 | chr2:179442181;179442180;179442179 |
| 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 | rs1244248488  |
-0.67 | 0.103 | D | 0.576 | 0.442 | 0.599723285281 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| G/E | rs1244248488 |
-0.67 | 0.103 | D | 0.576 | 0.442 | 0.599723285281 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs1244248488 |
-0.67 | 0.103 | D | 0.576 | 0.442 | 0.599723285281 | gnomAD-4.0.0 | 6.48783E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.71926E-06 | 0 | 2.87604E-05 |
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 | 0.5598 | ambiguous | 0.5584 | ambiguous | -0.344 | Destabilizing | 0.775 | D | 0.676 | prob.neutral | D | 0.625218955 | None | None | N |
| G/C | 0.7264 | likely_pathogenic | 0.7221 | pathogenic | -0.855 | Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| G/D | 0.76 | likely_pathogenic | 0.7054 | pathogenic | -0.26 | Destabilizing | 0.941 | D | 0.831 | deleterious | None | None | None | None | N |
| G/E | 0.7529 | likely_pathogenic | 0.7358 | pathogenic | -0.405 | Destabilizing | 0.103 | N | 0.576 | neutral | D | 0.60407233 | None | None | N |
| G/F | 0.9568 | likely_pathogenic | 0.9569 | pathogenic | -0.982 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| G/H | 0.8566 | likely_pathogenic | 0.8307 | pathogenic | -0.618 | Destabilizing | 0.996 | D | 0.857 | deleterious | None | None | None | None | N |
| G/I | 0.9589 | likely_pathogenic | 0.9624 | pathogenic | -0.39 | Destabilizing | 0.996 | D | 0.859 | deleterious | None | None | None | None | N |
| G/K | 0.7786 | likely_pathogenic | 0.7539 | pathogenic | -0.743 | Destabilizing | 0.941 | D | 0.825 | deleterious | None | None | None | None | N |
| G/L | 0.9118 | likely_pathogenic | 0.9129 | pathogenic | -0.39 | Destabilizing | 0.97 | D | 0.819 | deleterious | None | None | None | None | N |
| G/M | 0.9135 | likely_pathogenic | 0.915 | pathogenic | -0.432 | Destabilizing | 0.999 | D | 0.83 | deleterious | None | None | None | None | N |
| G/N | 0.6732 | likely_pathogenic | 0.6206 | pathogenic | -0.391 | Destabilizing | 0.97 | D | 0.843 | deleterious | None | None | None | None | N |
| G/P | 0.9904 | likely_pathogenic | 0.9868 | pathogenic | -0.339 | Destabilizing | 0.985 | D | 0.837 | deleterious | None | None | None | None | N |
| G/Q | 0.7202 | likely_pathogenic | 0.6983 | pathogenic | -0.635 | Destabilizing | 0.941 | D | 0.839 | deleterious | None | None | None | None | N |
| G/R | 0.6642 | likely_pathogenic | 0.6539 | pathogenic | -0.365 | Destabilizing | 0.924 | D | 0.84 | deleterious | D | 0.618687984 | None | None | N |
| G/S | 0.3415 | ambiguous | 0.3175 | benign | -0.617 | Destabilizing | 0.941 | D | 0.83 | deleterious | None | None | None | None | N |
| G/T | 0.7044 | likely_pathogenic | 0.6861 | pathogenic | -0.679 | Destabilizing | 0.97 | D | 0.829 | deleterious | None | None | None | None | N |
| G/V | 0.9101 | likely_pathogenic | 0.9162 | pathogenic | -0.339 | Destabilizing | 0.96 | D | 0.822 | deleterious | D | 0.651160675 | None | None | N |
| G/W | 0.8845 | likely_pathogenic | 0.8854 | pathogenic | -1.152 | Destabilizing | 0.998 | D | 0.845 | deleterious | D | 0.651362479 | None | None | N |
| G/Y | 0.9249 | likely_pathogenic | 0.9169 | pathogenic | -0.786 | Destabilizing | 0.999 | D | 0.86 | 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.