Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 181 | 766;767;768 | chr2:178800437;178800436;178800435 | chr2:179665164;179665163;179665162 |
| N2AB | 181 | 766;767;768 | chr2:178800437;178800436;178800435 | chr2:179665164;179665163;179665162 |
| N2A | 181 | 766;767;768 | chr2:178800437;178800436;178800435 | chr2:179665164;179665163;179665162 |
| N2B | 181 | 766;767;768 | chr2:178800437;178800436;178800435 | chr2:179665164;179665163;179665162 |
| Novex-1 | 181 | 766;767;768 | chr2:178800437;178800436;178800435 | chr2:179665164;179665163;179665162 |
| Novex-2 | 181 | 766;767;768 | chr2:178800437;178800436;178800435 | chr2:179665164;179665163;179665162 |
| Novex-3 | 181 | 766;767;768 | chr2:178800437;178800436;178800435 | chr2:179665164;179665163;179665162 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs72647843  |
-0.089 | 0.002 | D | 0.296 | 0.157 | None | gnomAD-2.1.1 | 5.7996E-03 | None | None | None | -0.285(TCAP) | I | None | 5.80035E-02 | 3.49946E-03 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 3.95006E-04 | 1.93852E-03 |
| S/N | rs72647843 |
-0.089 | 0.002 | D | 0.296 | 0.157 | None | gnomAD-3.1.2 | 1.64213E-02 | None | None | None | -0.285(TCAP) | I | None | 5.66739E-02 | 6.21402E-03 | 0 | 0 | 1.92456E-04 | None | 0 | 9.49367E-03 | 3.67485E-04 | 2.07039E-04 | 1.24283E-02 |
| S/N | rs72647843 |
-0.089 | 0.002 | D | 0.296 | 0.157 | None | 1000 genomes | 1.81709E-02 | None | None | None | -0.285(TCAP) | I | None | 6.58E-02 | 5.8E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| S/N | rs72647843 |
-0.089 | 0.002 | D | 0.296 | 0.157 | None | gnomAD-4.0.0 | 3.19547E-03 | None | None | None | -0.285(TCAP) | I | None | 5.76554E-02 | 4.26439E-03 | None | 0 | 4.45593E-05 | None | 0 | 3.13428E-03 | 2.33898E-04 | 1.20768E-04 | 4.28745E-03 |
| S/R | None | None | 0.998 | N | 0.417 | 0.56 | 0.455173453901 | gnomAD-4.0.0 | 6.84065E-07 | None | None | None | 0.244(TCAP) | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.993E-07 | 0 | 0 |
| S/T | None | None | 0.639 | N | 0.386 | 0.196 | 0.235038932564 | gnomAD-4.0.0 | 6.8406E-07 | None | None | None | -0.245(TCAP) | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99297E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0865 | likely_benign | 0.1003 | benign | -0.16 | Destabilizing | 0.379 | N | 0.443 | neutral | None | None | None | -0.269(TCAP) | I |
| S/C | 0.4817 | ambiguous | 0.5824 | pathogenic | -0.49 | Destabilizing | 0.999 | D | 0.494 | neutral | D | 0.580405861 | None | 0.344(TCAP) | I |
| S/D | 0.4344 | ambiguous | 0.5407 | ambiguous | -0.064 | Destabilizing | 0.909 | D | 0.349 | neutral | None | None | None | -0.319(TCAP) | I |
| S/E | 0.4792 | ambiguous | 0.5872 | pathogenic | -0.172 | Destabilizing | 0.966 | D | 0.384 | neutral | None | None | None | -0.33(TCAP) | I |
| S/F | 0.4059 | ambiguous | 0.5146 | ambiguous | -0.918 | Destabilizing | 0.999 | D | 0.526 | neutral | None | None | None | -0.116(TCAP) | I |
| S/G | 0.1275 | likely_benign | 0.1581 | benign | -0.19 | Destabilizing | 0.853 | D | 0.393 | neutral | N | 0.518981116 | None | -0.306(TCAP) | I |
| S/H | 0.529 | ambiguous | 0.6305 | pathogenic | -0.483 | Destabilizing | 0.998 | D | 0.436 | neutral | None | None | None | 0.506(TCAP) | I |
| S/I | 0.2643 | likely_benign | 0.3427 | ambiguous | -0.213 | Destabilizing | 0.998 | D | 0.508 | neutral | N | 0.516379396 | None | -0.168(TCAP) | I |
| S/K | 0.7616 | likely_pathogenic | 0.8625 | pathogenic | -0.447 | Destabilizing | 0.987 | D | 0.376 | neutral | None | None | None | 0.14(TCAP) | I |
| S/L | 0.1686 | likely_benign | 0.2073 | benign | -0.213 | Destabilizing | 0.998 | D | 0.387 | neutral | None | None | None | -0.168(TCAP) | I |
| S/M | 0.309 | likely_benign | 0.3648 | ambiguous | -0.23 | Destabilizing | 1.0 | D | 0.461 | neutral | None | None | None | 0.485(TCAP) | I |
| S/N | 0.192 | likely_benign | 0.1545 | benign | -0.26 | Destabilizing | 0.002 | N | 0.296 | neutral | D | 0.552897257 | None | -0.285(TCAP) | I |
| S/P | 0.2294 | likely_benign | 0.3154 | benign | -0.173 | Destabilizing | 0.998 | D | 0.427 | neutral | None | None | None | -0.198(TCAP) | I |
| S/Q | 0.5396 | ambiguous | 0.6455 | pathogenic | -0.47 | Destabilizing | 0.998 | D | 0.389 | neutral | None | None | None | -0.196(TCAP) | I |
| S/R | 0.6466 | likely_pathogenic | 0.7914 | pathogenic | -0.193 | Destabilizing | 0.998 | D | 0.417 | neutral | N | 0.516712492 | None | 0.244(TCAP) | I |
| S/T | 0.1035 | likely_benign | 0.1167 | benign | -0.364 | Destabilizing | 0.639 | D | 0.386 | neutral | N | 0.506954133 | None | -0.245(TCAP) | I |
| S/V | 0.2596 | likely_benign | 0.3182 | benign | -0.173 | Destabilizing | 0.995 | D | 0.464 | neutral | None | None | None | -0.198(TCAP) | I |
| S/W | 0.5947 | likely_pathogenic | 0.7106 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | 0.032(TCAP) | I |
| S/Y | 0.376 | ambiguous | 0.4855 | ambiguous | -0.698 | Destabilizing | 0.999 | D | 0.528 | neutral | None | None | None | 0.134(TCAP) | 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.