Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16439 | 49540;49541;49542 | chr2:178614082;178614081;178614080 | chr2:179478809;179478808;179478807 |
| N2AB | 14798 | 44617;44618;44619 | chr2:178614082;178614081;178614080 | chr2:179478809;179478808;179478807 |
| N2A | 13871 | 41836;41837;41838 | chr2:178614082;178614081;178614080 | chr2:179478809;179478808;179478807 |
| N2B | 7374 | 22345;22346;22347 | chr2:178614082;178614081;178614080 | chr2:179478809;179478808;179478807 |
| Novex-1 | 7499 | 22720;22721;22722 | chr2:178614082;178614081;178614080 | chr2:179478809;179478808;179478807 |
| Novex-2 | 7566 | 22921;22922;22923 | chr2:178614082;178614081;178614080 | chr2:179478809;179478808;179478807 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs759710792  |
-1.069 | 0.024 | N | 0.491 | 0.074 | 0.110078149338 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| A/S | rs759710792 |
-1.069 | 0.024 | N | 0.491 | 0.074 | 0.110078149338 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs759710792 |
-1.069 | 0.024 | N | 0.491 | 0.074 | 0.110078149338 | gnomAD-4.0.0 | 1.2405E-06 | None | None | None | None | N | None | 0 | 1.67112E-05 | None | 0 | 0 | None | 0 | 0 | 8.4802E-07 | 0 | 0 |
| A/T | rs759710792 |
-0.857 | 0.483 | N | 0.584 | 0.144 | 0.203808441222 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 5.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs759710792 |
-0.857 | 0.483 | N | 0.584 | 0.144 | 0.203808441222 | gnomAD-4.0.0 | 1.36945E-06 | None | None | None | None | N | None | 0 | 4.48189E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3314 | likely_benign | 0.2909 | benign | -0.344 | Destabilizing | 0.018 | N | 0.486 | neutral | None | None | None | None | N |
| A/D | 0.6094 | likely_pathogenic | 0.5267 | ambiguous | -0.927 | Destabilizing | 0.651 | D | 0.602 | neutral | N | 0.476553852 | None | None | N |
| A/E | 0.607 | likely_pathogenic | 0.5275 | ambiguous | -0.806 | Destabilizing | 0.712 | D | 0.593 | neutral | None | None | None | None | N |
| A/F | 0.444 | ambiguous | 0.3791 | ambiguous | -0.32 | Destabilizing | 0.946 | D | 0.657 | prob.neutral | None | None | None | None | N |
| A/G | 0.1496 | likely_benign | 0.133 | benign | -0.822 | Destabilizing | 0.483 | N | 0.507 | neutral | N | 0.46707698 | None | None | N |
| A/H | 0.4529 | ambiguous | 0.3621 | ambiguous | -1.157 | Destabilizing | 0.003 | N | 0.448 | neutral | None | None | None | None | N |
| A/I | 0.4237 | ambiguous | 0.3996 | ambiguous | 0.537 | Stabilizing | 0.897 | D | 0.656 | prob.neutral | None | None | None | None | N |
| A/K | 0.7869 | likely_pathogenic | 0.7212 | pathogenic | -0.678 | Destabilizing | 0.712 | D | 0.595 | neutral | None | None | None | None | N |
| A/L | 0.3141 | likely_benign | 0.2876 | benign | 0.537 | Stabilizing | 0.553 | D | 0.615 | neutral | None | None | None | None | N |
| A/M | 0.35 | ambiguous | 0.327 | benign | 0.346 | Stabilizing | 0.995 | D | 0.603 | neutral | None | None | None | None | N |
| A/N | 0.4178 | ambiguous | 0.355 | ambiguous | -0.752 | Destabilizing | 0.712 | D | 0.58 | neutral | None | None | None | None | N |
| A/P | 0.7839 | likely_pathogenic | 0.7131 | pathogenic | 0.259 | Stabilizing | 0.93 | D | 0.65 | prob.neutral | N | 0.406671536 | None | None | N |
| A/Q | 0.5526 | ambiguous | 0.4764 | ambiguous | -0.641 | Destabilizing | 0.946 | D | 0.641 | neutral | None | None | None | None | N |
| A/R | 0.742 | likely_pathogenic | 0.6732 | pathogenic | -0.734 | Destabilizing | 0.897 | D | 0.653 | prob.neutral | None | None | None | None | N |
| A/S | 0.0924 | likely_benign | 0.0878 | benign | -1.158 | Destabilizing | 0.024 | N | 0.491 | neutral | N | 0.357101458 | None | None | N |
| A/T | 0.1133 | likely_benign | 0.114 | benign | -0.911 | Destabilizing | 0.483 | N | 0.584 | neutral | N | 0.42838806 | None | None | N |
| A/V | 0.2071 | likely_benign | 0.1963 | benign | 0.259 | Stabilizing | 0.651 | D | 0.577 | neutral | N | 0.447205514 | None | None | N |
| A/W | 0.8315 | likely_pathogenic | 0.7749 | pathogenic | -0.972 | Destabilizing | 0.995 | D | 0.8 | deleterious | None | None | None | None | N |
| A/Y | 0.5389 | ambiguous | 0.4583 | ambiguous | -0.339 | Destabilizing | 0.897 | D | 0.623 | neutral | 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.