Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27627 | 83104;83105;83106 | chr2:178563253;178563252;178563251 | chr2:179427980;179427979;179427978 |
| N2AB | 25986 | 78181;78182;78183 | chr2:178563253;178563252;178563251 | chr2:179427980;179427979;179427978 |
| N2A | 25059 | 75400;75401;75402 | chr2:178563253;178563252;178563251 | chr2:179427980;179427979;179427978 |
| N2B | 18562 | 55909;55910;55911 | chr2:178563253;178563252;178563251 | chr2:179427980;179427979;179427978 |
| Novex-1 | 18687 | 56284;56285;56286 | chr2:178563253;178563252;178563251 | chr2:179427980;179427979;179427978 |
| Novex-2 | 18754 | 56485;56486;56487 | chr2:178563253;178563252;178563251 | chr2:179427980;179427979;179427978 |
| 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/H | rs878939366  |
None | 0.009 | N | 0.19 | 0.083 | 0.190952846119 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| Q/K | None | 0.385 | 0.016 | N | 0.171 | 0.239 | 0.156986980423 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.92E-05 | 0 |
| Q/K | None | 0.385 | 0.016 | N | 0.171 | 0.239 | 0.156986980423 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/K | None | 0.385 | 0.016 | N | 0.171 | 0.239 | 0.156986980423 | gnomAD-4.0.0 | 3.71847E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08595E-06 | 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 | 0.1249 | likely_benign | 0.1462 | benign | -0.159 | Destabilizing | 0.4 | N | 0.356 | neutral | None | None | None | None | N |
| Q/C | 0.5321 | ambiguous | 0.5883 | pathogenic | 0.067 | Stabilizing | 0.992 | D | 0.343 | neutral | None | None | None | None | N |
| Q/D | 0.3037 | likely_benign | 0.3644 | ambiguous | 0.281 | Stabilizing | 0.617 | D | 0.347 | neutral | None | None | None | None | N |
| Q/E | 0.0926 | likely_benign | 0.1042 | benign | 0.246 | Stabilizing | 0.334 | N | 0.395 | neutral | N | 0.449157576 | None | None | N |
| Q/F | 0.5134 | ambiguous | 0.5953 | pathogenic | -0.468 | Destabilizing | 0.85 | D | 0.371 | neutral | None | None | None | None | N |
| Q/G | 0.2204 | likely_benign | 0.2546 | benign | -0.302 | Destabilizing | 0.617 | D | 0.432 | neutral | None | None | None | None | N |
| Q/H | 0.1578 | likely_benign | 0.1855 | benign | -0.155 | Destabilizing | 0.009 | N | 0.19 | neutral | N | 0.482078071 | None | None | N |
| Q/I | 0.2348 | likely_benign | 0.2783 | benign | 0.121 | Stabilizing | 0.739 | D | 0.385 | neutral | None | None | None | None | N |
| Q/K | 0.0934 | likely_benign | 0.1053 | benign | 0.211 | Stabilizing | 0.016 | N | 0.171 | neutral | N | 0.416373154 | None | None | N |
| Q/L | 0.0962 | likely_benign | 0.1117 | benign | 0.121 | Stabilizing | 0.004 | N | 0.284 | neutral | N | 0.502357343 | None | None | N |
| Q/M | 0.2618 | likely_benign | 0.2954 | benign | 0.252 | Stabilizing | 0.85 | D | 0.412 | neutral | None | None | None | None | N |
| Q/N | 0.2189 | likely_benign | 0.2503 | benign | -0.168 | Destabilizing | 0.447 | N | 0.389 | neutral | None | None | None | None | N |
| Q/P | 0.0742 | likely_benign | 0.0881 | benign | 0.054 | Stabilizing | 0.004 | N | 0.264 | neutral | N | 0.450485728 | None | None | N |
| Q/R | 0.0987 | likely_benign | 0.1058 | benign | 0.319 | Stabilizing | 0.379 | N | 0.371 | neutral | N | 0.444482475 | None | None | N |
| Q/S | 0.15 | likely_benign | 0.1666 | benign | -0.173 | Destabilizing | 0.617 | D | 0.334 | neutral | None | None | None | None | N |
| Q/T | 0.1251 | likely_benign | 0.1411 | benign | -0.058 | Destabilizing | 0.766 | D | 0.384 | neutral | None | None | None | None | N |
| Q/V | 0.1558 | likely_benign | 0.1768 | benign | 0.054 | Stabilizing | 0.447 | N | 0.431 | neutral | None | None | None | None | N |
| Q/W | 0.4467 | ambiguous | 0.498 | ambiguous | -0.475 | Destabilizing | 0.992 | D | 0.375 | neutral | None | None | None | None | N |
| Q/Y | 0.3585 | ambiguous | 0.4097 | ambiguous | -0.192 | Destabilizing | 0.739 | D | 0.411 | 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.