Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32743 | 98452;98453;98454 | chr2:178539838;178539837;178539836 | chr2:179404565;179404564;179404563 |
| N2AB | 31102 | 93529;93530;93531 | chr2:178539838;178539837;178539836 | chr2:179404565;179404564;179404563 |
| N2A | 30175 | 90748;90749;90750 | chr2:178539838;178539837;178539836 | chr2:179404565;179404564;179404563 |
| N2B | 23678 | 71257;71258;71259 | chr2:178539838;178539837;178539836 | chr2:179404565;179404564;179404563 |
| Novex-1 | 23803 | 71632;71633;71634 | chr2:178539838;178539837;178539836 | chr2:179404565;179404564;179404563 |
| Novex-2 | 23870 | 71833;71834;71835 | chr2:178539838;178539837;178539836 | chr2:179404565;179404564;179404563 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs931997387  |
None | 0.001 | N | 0.137 | 0.141 | 0.243972157842 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs931997387 |
None | 0.001 | N | 0.137 | 0.141 | 0.243972157842 | gnomAD-4.0.0 | 1.31409E-05 | None | None | None | None | N | None | 4.82509E-05 | 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 | 0.1663 | likely_benign | 0.1749 | benign | -0.176 | Destabilizing | 0.495 | N | 0.383 | neutral | None | None | None | None | N |
| Q/C | 0.3403 | ambiguous | 0.3509 | ambiguous | 0.202 | Stabilizing | 0.995 | D | 0.355 | neutral | None | None | None | None | N |
| Q/D | 0.2786 | likely_benign | 0.332 | benign | 0.079 | Stabilizing | 0.704 | D | 0.263 | neutral | None | None | None | None | N |
| Q/E | 0.0803 | likely_benign | 0.0864 | benign | 0.046 | Stabilizing | 0.425 | N | 0.31 | neutral | N | 0.43048975 | None | None | N |
| Q/F | 0.432 | ambiguous | 0.4776 | ambiguous | -0.426 | Destabilizing | 0.893 | D | 0.419 | neutral | None | None | None | None | N |
| Q/G | 0.2211 | likely_benign | 0.2347 | benign | -0.35 | Destabilizing | 0.704 | D | 0.385 | neutral | None | None | None | None | N |
| Q/H | 0.1169 | likely_benign | 0.1223 | benign | -0.229 | Destabilizing | 0.002 | N | 0.172 | neutral | N | 0.50941468 | None | None | N |
| Q/I | 0.2098 | likely_benign | 0.2293 | benign | 0.192 | Stabilizing | 0.543 | D | 0.439 | neutral | None | None | None | None | N |
| Q/K | 0.0744 | likely_benign | 0.0738 | benign | 0.102 | Stabilizing | 0.27 | N | 0.288 | neutral | N | 0.438127798 | None | None | N |
| Q/L | 0.1057 | likely_benign | 0.109 | benign | 0.192 | Stabilizing | 0.002 | N | 0.216 | neutral | N | 0.497120174 | None | None | N |
| Q/M | 0.2476 | likely_benign | 0.2559 | benign | 0.4 | Stabilizing | 0.893 | D | 0.279 | neutral | None | None | None | None | N |
| Q/N | 0.1786 | likely_benign | 0.2028 | benign | -0.18 | Destabilizing | 0.704 | D | 0.254 | neutral | None | None | None | None | N |
| Q/P | 0.5209 | ambiguous | 0.6009 | pathogenic | 0.097 | Stabilizing | 0.917 | D | 0.417 | neutral | N | 0.499863927 | None | None | N |
| Q/R | 0.0811 | likely_benign | 0.0775 | benign | 0.255 | Stabilizing | 0.001 | N | 0.137 | neutral | N | 0.450635736 | None | None | N |
| Q/S | 0.1904 | likely_benign | 0.202 | benign | -0.186 | Destabilizing | 0.495 | N | 0.267 | neutral | None | None | None | None | N |
| Q/T | 0.1512 | likely_benign | 0.1582 | benign | -0.067 | Destabilizing | 0.828 | D | 0.37 | neutral | None | None | None | None | N |
| Q/V | 0.1524 | likely_benign | 0.1607 | benign | 0.097 | Stabilizing | 0.543 | D | 0.386 | neutral | None | None | None | None | N |
| Q/W | 0.3797 | ambiguous | 0.4172 | ambiguous | -0.432 | Destabilizing | 0.995 | D | 0.365 | neutral | None | None | None | None | N |
| Q/Y | 0.2592 | likely_benign | 0.2987 | benign | -0.164 | Destabilizing | 0.704 | D | 0.397 | 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.