Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20492 | 61699;61700;61701 | chr2:178590251;178590250;178590249 | chr2:179454978;179454977;179454976 |
| N2AB | 18851 | 56776;56777;56778 | chr2:178590251;178590250;178590249 | chr2:179454978;179454977;179454976 |
| N2A | 17924 | 53995;53996;53997 | chr2:178590251;178590250;178590249 | chr2:179454978;179454977;179454976 |
| N2B | 11427 | 34504;34505;34506 | chr2:178590251;178590250;178590249 | chr2:179454978;179454977;179454976 |
| Novex-1 | 11552 | 34879;34880;34881 | chr2:178590251;178590250;178590249 | chr2:179454978;179454977;179454976 |
| Novex-2 | 11619 | 35080;35081;35082 | chr2:178590251;178590250;178590249 | chr2:179454978;179454977;179454976 |
| 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/K | rs2154184267  |
None | 0.826 | N | 0.345 | 0.313 | 0.208000267992 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 0 | 0 | 0 |
| Q/K | rs2154184267 |
None | 0.826 | N | 0.345 | 0.313 | 0.208000267992 | gnomAD-4.0.0 | 3.15482E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.69607E-04 | 3.43116E-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 | 0.3655 | ambiguous | 0.3894 | ambiguous | -0.32 | Destabilizing | 0.927 | D | 0.327 | neutral | None | None | None | None | I |
| Q/C | 0.8064 | likely_pathogenic | 0.8362 | pathogenic | 0.196 | Stabilizing | 0.999 | D | 0.482 | neutral | None | None | None | None | I |
| Q/D | 0.4844 | ambiguous | 0.4902 | ambiguous | -0.004 | Destabilizing | 0.969 | D | 0.295 | neutral | None | None | None | None | I |
| Q/E | 0.121 | likely_benign | 0.116 | benign | -0.017 | Destabilizing | 0.826 | D | 0.381 | neutral | N | 0.42840301 | None | None | I |
| Q/F | 0.8859 | likely_pathogenic | 0.9 | pathogenic | -0.437 | Destabilizing | 0.991 | D | 0.46 | neutral | None | None | None | None | I |
| Q/G | 0.3966 | ambiguous | 0.3967 | ambiguous | -0.539 | Destabilizing | 0.969 | D | 0.389 | neutral | None | None | None | None | I |
| Q/H | 0.3226 | likely_benign | 0.3409 | ambiguous | -0.47 | Destabilizing | 0.015 | N | 0.193 | neutral | N | 0.444223398 | None | None | I |
| Q/I | 0.7919 | likely_pathogenic | 0.8291 | pathogenic | 0.176 | Stabilizing | 0.997 | D | 0.461 | neutral | None | None | None | None | I |
| Q/K | 0.1965 | likely_benign | 0.1833 | benign | 0.031 | Stabilizing | 0.826 | D | 0.345 | neutral | N | 0.462230369 | None | None | I |
| Q/L | 0.365 | ambiguous | 0.3768 | ambiguous | 0.176 | Stabilizing | 0.959 | D | 0.383 | neutral | N | 0.504906498 | None | None | I |
| Q/M | 0.4926 | ambiguous | 0.5212 | ambiguous | 0.531 | Stabilizing | 0.997 | D | 0.33 | neutral | None | None | None | None | I |
| Q/N | 0.2746 | likely_benign | 0.3077 | benign | -0.328 | Destabilizing | 0.939 | D | 0.288 | neutral | None | None | None | None | I |
| Q/P | 0.9104 | likely_pathogenic | 0.9237 | pathogenic | 0.04 | Stabilizing | 0.996 | D | 0.345 | neutral | N | 0.45926374 | None | None | I |
| Q/R | 0.2938 | likely_benign | 0.2685 | benign | 0.165 | Stabilizing | 0.92 | D | 0.331 | neutral | N | 0.471620643 | None | None | I |
| Q/S | 0.3215 | likely_benign | 0.3442 | ambiguous | -0.347 | Destabilizing | 0.969 | D | 0.285 | neutral | None | None | None | None | I |
| Q/T | 0.3383 | likely_benign | 0.3714 | ambiguous | -0.193 | Destabilizing | 0.969 | D | 0.383 | neutral | None | None | None | None | I |
| Q/V | 0.5817 | likely_pathogenic | 0.6195 | pathogenic | 0.04 | Stabilizing | 0.99 | D | 0.407 | neutral | None | None | None | None | I |
| Q/W | 0.8719 | likely_pathogenic | 0.8825 | pathogenic | -0.37 | Destabilizing | 0.999 | D | 0.467 | neutral | None | None | None | None | I |
| Q/Y | 0.6996 | likely_pathogenic | 0.7227 | pathogenic | -0.13 | Destabilizing | 0.939 | D | 0.363 | neutral | None | None | None | None | I |
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.