Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18981 | 57166;57167;57168 | chr2:178598769;178598768;178598767 | chr2:179463496;179463495;179463494 |
| N2AB | 17340 | 52243;52244;52245 | chr2:178598769;178598768;178598767 | chr2:179463496;179463495;179463494 |
| N2A | 16413 | 49462;49463;49464 | chr2:178598769;178598768;178598767 | chr2:179463496;179463495;179463494 |
| N2B | 9916 | 29971;29972;29973 | chr2:178598769;178598768;178598767 | chr2:179463496;179463495;179463494 |
| Novex-1 | 10041 | 30346;30347;30348 | chr2:178598769;178598768;178598767 | chr2:179463496;179463495;179463494 |
| Novex-2 | 10108 | 30547;30548;30549 | chr2:178598769;178598768;178598767 | chr2:179463496;179463495;179463494 |
| 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/E | None | None | 0.065 | N | 0.623 | 0.082 | 0.117506650769 | gnomAD-4.0.0 | 1.36902E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79943E-06 | 0 | 0 |
| A/P | rs760651904  |
-0.197 | 0.162 | N | 0.645 | 0.089 | 0.162503812791 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs760651904 |
-0.197 | 0.162 | N | 0.645 | 0.089 | 0.162503812791 | gnomAD-4.0.0 | 6.84439E-07 | None | None | None | None | N | None | 0 | 2.23794E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs760651904 |
-0.872 | None | N | 0.246 | 0.119 | 0.0884992946249 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| A/T | rs760651904 |
-0.872 | None | N | 0.246 | 0.119 | 0.0884992946249 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs760651904 |
-0.872 | None | N | 0.246 | 0.119 | 0.0884992946249 | gnomAD-4.0.0 | 3.09957E-06 | None | None | None | None | N | None | 0 | 1.66834E-05 | None | 0 | 0 | None | 0 | 0 | 1.69567E-06 | 0 | 3.20318E-05 |
| A/V | rs397517627 |
0.146 | None | N | 0.245 | 0.078 | None | gnomAD-2.1.1 | 1.1101E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.15E-05 | None | 0 | None | 0 | 2.27526E-04 | 1.40805E-04 |
| A/V | rs397517627 |
0.146 | None | N | 0.245 | 0.078 | None | gnomAD-3.1.2 | 1.31529E-04 | None | None | None | None | N | None | 2.41E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 2.64784E-04 | 0 | 0 |
| A/V | rs397517627 |
0.146 | None | N | 0.245 | 0.078 | None | gnomAD-4.0.0 | 2.38073E-04 | None | None | None | None | N | None | 1.33622E-05 | 1.66939E-05 | None | 0 | 0 | None | 0 | 0 | 3.18795E-04 | 0 | 9.60953E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2786 | likely_benign | 0.2871 | benign | -0.792 | Destabilizing | None | N | 0.369 | neutral | None | None | None | None | N |
| A/D | 0.5606 | ambiguous | 0.5682 | pathogenic | -1.304 | Destabilizing | 0.035 | N | 0.648 | neutral | None | None | None | None | N |
| A/E | 0.3356 | likely_benign | 0.3329 | benign | -1.344 | Destabilizing | 0.065 | N | 0.623 | neutral | N | 0.508856454 | None | None | N |
| A/F | 0.1843 | likely_benign | 0.2173 | benign | -1.042 | Destabilizing | 0.112 | N | 0.641 | neutral | None | None | None | None | N |
| A/G | 0.2033 | likely_benign | 0.231 | benign | -1.136 | Destabilizing | 0.065 | N | 0.457 | neutral | N | 0.464995548 | None | None | N |
| A/H | 0.475 | ambiguous | 0.4807 | ambiguous | -1.291 | Destabilizing | 0.747 | D | 0.583 | neutral | None | None | None | None | N |
| A/I | 0.0711 | likely_benign | 0.0855 | benign | -0.377 | Destabilizing | None | N | 0.441 | neutral | None | None | None | None | N |
| A/K | 0.4775 | ambiguous | 0.4741 | ambiguous | -1.283 | Destabilizing | 0.035 | N | 0.613 | neutral | None | None | None | None | N |
| A/L | 0.1186 | likely_benign | 0.1268 | benign | -0.377 | Destabilizing | 0.001 | N | 0.488 | neutral | None | None | None | None | N |
| A/M | 0.097 | likely_benign | 0.1212 | benign | -0.279 | Destabilizing | 0.001 | N | 0.493 | neutral | None | None | None | None | N |
| A/N | 0.3306 | likely_benign | 0.3709 | ambiguous | -0.931 | Destabilizing | 0.112 | N | 0.647 | neutral | None | None | None | None | N |
| A/P | 0.9086 | likely_pathogenic | 0.8825 | pathogenic | -0.508 | Destabilizing | 0.162 | N | 0.645 | neutral | N | 0.464995548 | None | None | N |
| A/Q | 0.2958 | likely_benign | 0.3022 | benign | -1.102 | Destabilizing | 0.204 | N | 0.617 | neutral | None | None | None | None | N |
| A/R | 0.4538 | ambiguous | 0.4361 | ambiguous | -0.871 | Destabilizing | 0.112 | N | 0.645 | neutral | None | None | None | None | N |
| A/S | 0.113 | likely_benign | 0.1191 | benign | -1.216 | Destabilizing | 0.006 | N | 0.374 | neutral | N | 0.489923977 | None | None | N |
| A/T | 0.0659 | likely_benign | 0.0704 | benign | -1.163 | Destabilizing | None | N | 0.246 | neutral | N | 0.409478894 | None | None | N |
| A/V | 0.0465 | likely_benign | 0.0534 | benign | -0.508 | Destabilizing | None | N | 0.245 | neutral | N | 0.358071425 | None | None | N |
| A/W | 0.7506 | likely_pathogenic | 0.7422 | pathogenic | -1.375 | Destabilizing | 0.747 | D | 0.677 | prob.neutral | None | None | None | None | N |
| A/Y | 0.4087 | ambiguous | 0.4181 | ambiguous | -0.987 | Destabilizing | 0.204 | N | 0.607 | 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.