Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 151 | 676;677;678 | chr2:178800527;178800526;178800525 | chr2:179665254;179665253;179665252 |
| N2AB | 151 | 676;677;678 | chr2:178800527;178800526;178800525 | chr2:179665254;179665253;179665252 |
| N2A | 151 | 676;677;678 | chr2:178800527;178800526;178800525 | chr2:179665254;179665253;179665252 |
| N2B | 151 | 676;677;678 | chr2:178800527;178800526;178800525 | chr2:179665254;179665253;179665252 |
| Novex-1 | 151 | 676;677;678 | chr2:178800527;178800526;178800525 | chr2:179665254;179665253;179665252 |
| Novex-2 | 151 | 676;677;678 | chr2:178800527;178800526;178800525 | chr2:179665254;179665253;179665252 |
| Novex-3 | 151 | 676;677;678 | chr2:178800527;178800526;178800525 | chr2:179665254;179665253;179665252 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs975437384  |
None | 0.981 | N | 0.345 | 0.245 | 0.277317399466 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | 0.477(TCAP) | N | None | 0 | 0 | 1.09649E-03 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/H | rs975437384 |
None | 0.981 | N | 0.345 | 0.245 | 0.277317399466 | gnomAD-4.0.0 | 6.57056E-06 | None | None | None | 0.477(TCAP) | N | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.5611 | ambiguous | 0.5645 | pathogenic | -0.738 | Destabilizing | 0.767 | D | 0.275 | neutral | None | None | None | 0.008(TCAP) | N |
| Q/C | 0.975 | likely_pathogenic | 0.9611 | pathogenic | -0.166 | Destabilizing | 0.995 | D | 0.417 | neutral | None | None | None | 0.117(TCAP) | N |
| Q/D | 0.8288 | likely_pathogenic | 0.8449 | pathogenic | -0.571 | Destabilizing | 0.705 | D | 0.302 | neutral | None | None | None | 0.078(TCAP) | N |
| Q/E | 0.1844 | likely_benign | 0.1828 | benign | -0.488 | Destabilizing | 0.34 | N | 0.312 | neutral | N | 0.457120639 | None | 0.012(TCAP) | N |
| Q/F | 0.941 | likely_pathogenic | 0.9364 | pathogenic | -0.601 | Destabilizing | 0.969 | D | 0.407 | neutral | None | None | None | -0.149(TCAP) | N |
| Q/G | 0.8018 | likely_pathogenic | 0.8067 | pathogenic | -1.057 | Destabilizing | 0.888 | D | 0.332 | neutral | None | None | None | -0.021(TCAP) | N |
| Q/H | 0.5801 | likely_pathogenic | 0.5837 | pathogenic | -0.995 | Destabilizing | 0.981 | D | 0.345 | neutral | N | 0.497452452 | None | 0.477(TCAP) | N |
| Q/I | 0.7016 | likely_pathogenic | 0.6739 | pathogenic | 0.064 | Stabilizing | 0.613 | D | 0.382 | neutral | None | None | None | 0.063(TCAP) | N |
| Q/K | 0.2967 | likely_benign | 0.2897 | benign | -0.208 | Destabilizing | 0.007 | N | 0.096 | neutral | N | 0.427946755 | None | -0.148(TCAP) | N |
| Q/L | 0.4081 | ambiguous | 0.3829 | ambiguous | 0.064 | Stabilizing | 0.545 | D | 0.341 | neutral | N | 0.507858615 | None | 0.063(TCAP) | N |
| Q/M | 0.6855 | likely_pathogenic | 0.6551 | pathogenic | 0.558 | Stabilizing | 0.958 | D | 0.347 | neutral | None | None | None | 0.608(TCAP) | N |
| Q/N | 0.6672 | likely_pathogenic | 0.6945 | pathogenic | -0.735 | Destabilizing | 0.705 | D | 0.286 | neutral | None | None | None | -0.629(TCAP) | N |
| Q/P | 0.9521 | likely_pathogenic | 0.9536 | pathogenic | -0.174 | Destabilizing | 0.928 | D | 0.34 | neutral | D | 0.633693056 | None | 0.051(TCAP) | N |
| Q/R | 0.2866 | likely_benign | 0.2837 | benign | -0.159 | Destabilizing | 0.005 | N | 0.177 | neutral | N | 0.454975929 | None | -0.181(TCAP) | N |
| Q/S | 0.5008 | ambiguous | 0.5287 | ambiguous | -0.885 | Destabilizing | 0.888 | D | 0.248 | neutral | None | None | None | -0.449(TCAP) | N |
| Q/T | 0.4231 | ambiguous | 0.428 | ambiguous | -0.611 | Destabilizing | 0.236 | N | 0.276 | neutral | None | None | None | -0.41(TCAP) | N |
| Q/V | 0.5316 | ambiguous | 0.509 | ambiguous | -0.174 | Destabilizing | 0.013 | N | 0.273 | neutral | None | None | None | 0.051(TCAP) | N |
| Q/W | 0.9441 | likely_pathogenic | 0.9335 | pathogenic | -0.436 | Destabilizing | 0.999 | D | 0.447 | neutral | None | None | None | -0.206(TCAP) | N |
| Q/Y | 0.8814 | likely_pathogenic | 0.876 | pathogenic | -0.19 | Destabilizing | 0.99 | D | 0.355 | neutral | None | None | None | -0.015(TCAP) | 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.