Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29946 | 90061;90062;90063 | chr2:178553064;178553063;178553062 | chr2:179417791;179417790;179417789 |
| N2AB | 28305 | 85138;85139;85140 | chr2:178553064;178553063;178553062 | chr2:179417791;179417790;179417789 |
| N2A | 27378 | 82357;82358;82359 | chr2:178553064;178553063;178553062 | chr2:179417791;179417790;179417789 |
| N2B | 20881 | 62866;62867;62868 | chr2:178553064;178553063;178553062 | chr2:179417791;179417790;179417789 |
| Novex-1 | 21006 | 63241;63242;63243 | chr2:178553064;178553063;178553062 | chr2:179417791;179417790;179417789 |
| Novex-2 | 21073 | 63442;63443;63444 | chr2:178553064;178553063;178553062 | chr2:179417791;179417790;179417789 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs1019701643  |
-0.216 | 1.0 | N | 0.497 | 0.435 | 0.465038187318 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| S/C | rs1019701643 |
-0.216 | 1.0 | N | 0.497 | 0.435 | 0.465038187318 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| S/C | rs1019701643 |
-0.216 | 1.0 | N | 0.497 | 0.435 | 0.465038187318 | gnomAD-4.0.0 | 7.69724E-06 | None | None | None | None | N | None | 1.69142E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19721E-05 | 0 | 0 |
| S/F | rs1019701643 |
-0.776 | 0.999 | N | 0.592 | 0.385 | 0.564133873757 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.41849E-04 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs1019701643 |
-0.776 | 0.999 | N | 0.592 | 0.385 | 0.564133873757 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs1019701643 |
-0.776 | 0.999 | N | 0.592 | 0.385 | 0.564133873757 | gnomAD-4.0.0 | 6.57151E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.92753E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1231 | likely_benign | 0.1227 | benign | -0.479 | Destabilizing | 0.948 | D | 0.388 | neutral | N | 0.472600233 | None | None | N |
| S/C | 0.1596 | likely_benign | 0.1538 | benign | -0.331 | Destabilizing | 1.0 | D | 0.497 | neutral | N | 0.510899112 | None | None | N |
| S/D | 0.5704 | likely_pathogenic | 0.5744 | pathogenic | -0.131 | Destabilizing | 0.992 | D | 0.457 | neutral | None | None | None | None | N |
| S/E | 0.7124 | likely_pathogenic | 0.7144 | pathogenic | -0.21 | Destabilizing | 0.992 | D | 0.459 | neutral | None | None | None | None | N |
| S/F | 0.3615 | ambiguous | 0.3552 | ambiguous | -0.975 | Destabilizing | 0.999 | D | 0.592 | neutral | N | 0.488021917 | None | None | N |
| S/G | 0.1346 | likely_benign | 0.133 | benign | -0.621 | Destabilizing | 0.992 | D | 0.407 | neutral | None | None | None | None | N |
| S/H | 0.5129 | ambiguous | 0.5235 | ambiguous | -1.194 | Destabilizing | 1.0 | D | 0.486 | neutral | None | None | None | None | N |
| S/I | 0.334 | likely_benign | 0.3432 | ambiguous | -0.229 | Destabilizing | 0.995 | D | 0.589 | neutral | None | None | None | None | N |
| S/K | 0.8131 | likely_pathogenic | 0.8145 | pathogenic | -0.58 | Destabilizing | 0.983 | D | 0.463 | neutral | None | None | None | None | N |
| S/L | 0.1503 | likely_benign | 0.1499 | benign | -0.229 | Destabilizing | 0.983 | D | 0.475 | neutral | None | None | None | None | N |
| S/M | 0.2856 | likely_benign | 0.2946 | benign | 0.154 | Stabilizing | 1.0 | D | 0.492 | neutral | None | None | None | None | N |
| S/N | 0.2077 | likely_benign | 0.2094 | benign | -0.335 | Destabilizing | 0.992 | D | 0.491 | neutral | None | None | None | None | N |
| S/P | 0.8766 | likely_pathogenic | 0.8748 | pathogenic | -0.283 | Destabilizing | 0.999 | D | 0.511 | neutral | N | 0.510645622 | None | None | N |
| S/Q | 0.6359 | likely_pathogenic | 0.6484 | pathogenic | -0.642 | Destabilizing | 0.999 | D | 0.509 | neutral | None | None | None | None | N |
| S/R | 0.7745 | likely_pathogenic | 0.7808 | pathogenic | -0.359 | Destabilizing | 0.998 | D | 0.506 | neutral | None | None | None | None | N |
| S/T | 0.0771 | likely_benign | 0.0788 | benign | -0.427 | Destabilizing | 0.198 | N | 0.188 | neutral | N | 0.412735416 | None | None | N |
| S/V | 0.3157 | likely_benign | 0.3176 | benign | -0.283 | Destabilizing | 0.983 | D | 0.48 | neutral | None | None | None | None | N |
| S/W | 0.5935 | likely_pathogenic | 0.5896 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| S/Y | 0.3496 | ambiguous | 0.3442 | ambiguous | -0.675 | Destabilizing | 0.999 | D | 0.589 | neutral | N | 0.481741266 | 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.