Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26164 | 78715;78716;78717 | chr2:178567642;178567641;178567640 | chr2:179432369;179432368;179432367 |
| N2AB | 24523 | 73792;73793;73794 | chr2:178567642;178567641;178567640 | chr2:179432369;179432368;179432367 |
| N2A | 23596 | 71011;71012;71013 | chr2:178567642;178567641;178567640 | chr2:179432369;179432368;179432367 |
| N2B | 17099 | 51520;51521;51522 | chr2:178567642;178567641;178567640 | chr2:179432369;179432368;179432367 |
| Novex-1 | 17224 | 51895;51896;51897 | chr2:178567642;178567641;178567640 | chr2:179432369;179432368;179432367 |
| Novex-2 | 17291 | 52096;52097;52098 | chr2:178567642;178567641;178567640 | chr2:179432369;179432368;179432367 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs1172977615  |
-2.298 | 0.782 | N | 0.813 | 0.161 | 0.404592120364 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| I/V | rs764140362 |
-2.209 | 0.174 | N | 0.459 | 0.103 | 0.419835214384 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| I/V | rs764140362 |
-2.209 | 0.174 | N | 0.459 | 0.103 | 0.419835214384 | gnomAD-4.0.0 | 3.18976E-06 | None | None | None | None | N | None | 0 | 2.29085E-05 | None | 0 | 0 | None | 0 | 0 | 2.86569E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4573 | ambiguous | 0.4167 | ambiguous | -2.799 | Highly Destabilizing | 0.575 | D | 0.77 | deleterious | None | None | None | None | N |
| I/C | 0.7446 | likely_pathogenic | 0.7232 | pathogenic | -2.103 | Highly Destabilizing | 0.991 | D | 0.772 | deleterious | None | None | None | None | N |
| I/D | 0.974 | likely_pathogenic | 0.9714 | pathogenic | -3.3 | Highly Destabilizing | 0.826 | D | 0.833 | deleterious | None | None | None | None | N |
| I/E | 0.8953 | likely_pathogenic | 0.8802 | pathogenic | -3.124 | Highly Destabilizing | 0.704 | D | 0.816 | deleterious | None | None | None | None | N |
| I/F | 0.1472 | likely_benign | 0.1359 | benign | -1.67 | Destabilizing | 0.642 | D | 0.771 | deleterious | N | 0.461145439 | None | None | N |
| I/G | 0.8899 | likely_pathogenic | 0.8757 | pathogenic | -3.265 | Highly Destabilizing | 0.826 | D | 0.814 | deleterious | None | None | None | None | N |
| I/H | 0.7047 | likely_pathogenic | 0.6829 | pathogenic | -2.58 | Highly Destabilizing | 0.973 | D | 0.82 | deleterious | None | None | None | None | N |
| I/K | 0.6369 | likely_pathogenic | 0.5982 | pathogenic | -2.181 | Highly Destabilizing | 0.704 | D | 0.818 | deleterious | None | None | None | None | N |
| I/L | 0.1204 | likely_benign | 0.1249 | benign | -1.456 | Destabilizing | 0.001 | N | 0.285 | neutral | N | 0.484694302 | None | None | N |
| I/M | 0.0942 | likely_benign | 0.0896 | benign | -1.458 | Destabilizing | 0.782 | D | 0.813 | deleterious | N | 0.476648704 | None | None | N |
| I/N | 0.6916 | likely_pathogenic | 0.677 | pathogenic | -2.434 | Highly Destabilizing | 0.782 | D | 0.845 | deleterious | N | 0.497030683 | None | None | N |
| I/P | 0.9921 | likely_pathogenic | 0.9923 | pathogenic | -1.887 | Destabilizing | 0.906 | D | 0.856 | deleterious | None | None | None | None | N |
| I/Q | 0.6862 | likely_pathogenic | 0.6675 | pathogenic | -2.391 | Highly Destabilizing | 0.04 | N | 0.743 | deleterious | None | None | None | None | N |
| I/R | 0.4773 | ambiguous | 0.4463 | ambiguous | -1.719 | Destabilizing | 0.704 | D | 0.849 | deleterious | None | None | None | None | N |
| I/S | 0.4865 | ambiguous | 0.4494 | ambiguous | -3.043 | Highly Destabilizing | 0.505 | D | 0.799 | deleterious | N | 0.497527526 | None | None | N |
| I/T | 0.2073 | likely_benign | 0.1816 | benign | -2.75 | Highly Destabilizing | 0.505 | D | 0.801 | deleterious | N | 0.47636282 | None | None | N |
| I/V | 0.1176 | likely_benign | 0.114 | benign | -1.887 | Destabilizing | 0.174 | N | 0.459 | neutral | N | 0.497007452 | None | None | N |
| I/W | 0.7645 | likely_pathogenic | 0.757 | pathogenic | -2.025 | Highly Destabilizing | 0.991 | D | 0.803 | deleterious | None | None | None | None | N |
| I/Y | 0.5731 | likely_pathogenic | 0.547 | ambiguous | -1.832 | Destabilizing | 0.906 | D | 0.823 | 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.