Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32975 | 99148;99149;99150 | chr2:178539012;178539011;178539010 | chr2:179403739;179403738;179403737 |
| N2AB | 31334 | 94225;94226;94227 | chr2:178539012;178539011;178539010 | chr2:179403739;179403738;179403737 |
| N2A | 30407 | 91444;91445;91446 | chr2:178539012;178539011;178539010 | chr2:179403739;179403738;179403737 |
| N2B | 23910 | 71953;71954;71955 | chr2:178539012;178539011;178539010 | chr2:179403739;179403738;179403737 |
| Novex-1 | 24035 | 72328;72329;72330 | chr2:178539012;178539011;178539010 | chr2:179403739;179403738;179403737 |
| Novex-2 | 24102 | 72529;72530;72531 | chr2:178539012;178539011;178539010 | chr2:179403739;179403738;179403737 |
| 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/L | rs776743138  |
-0.081 | 0.135 | N | 0.413 | 0.219 | None | gnomAD-2.1.1 | 4.02E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 7.12E-05 | 1.65948E-04 |
| Q/L | rs776743138 |
-0.081 | 0.135 | N | 0.413 | 0.219 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| Q/L | rs776743138 |
-0.081 | 0.135 | N | 0.413 | 0.219 | None | gnomAD-4.0.0 | 2.7267E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56196E-05 | 0 | 3.3906E-05 | 0 | 4.804E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.4877 | ambiguous | 0.4686 | ambiguous | -0.839 | Destabilizing | 0.993 | D | 0.561 | neutral | None | None | None | None | N |
| Q/C | 0.8498 | likely_pathogenic | 0.8118 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| Q/D | 0.9518 | likely_pathogenic | 0.9343 | pathogenic | -2.218 | Highly Destabilizing | 0.998 | D | 0.499 | neutral | None | None | None | None | N |
| Q/E | 0.1658 | likely_benign | 0.1475 | benign | -1.983 | Destabilizing | 0.992 | D | 0.503 | neutral | N | 0.385994319 | None | None | N |
| Q/F | 0.9283 | likely_pathogenic | 0.922 | pathogenic | -0.576 | Destabilizing | 0.996 | D | 0.774 | deleterious | None | None | None | None | N |
| Q/G | 0.7688 | likely_pathogenic | 0.7327 | pathogenic | -1.239 | Destabilizing | 0.998 | D | 0.651 | neutral | None | None | None | None | N |
| Q/H | 0.6664 | likely_pathogenic | 0.6025 | pathogenic | -1.128 | Destabilizing | 0.999 | D | 0.569 | neutral | N | 0.461492155 | None | None | N |
| Q/I | 0.6392 | likely_pathogenic | 0.5977 | pathogenic | 0.225 | Stabilizing | 0.991 | D | 0.699 | prob.neutral | None | None | None | None | N |
| Q/K | 0.261 | likely_benign | 0.221 | benign | -0.547 | Destabilizing | 0.997 | D | 0.52 | neutral | N | 0.409428539 | None | None | N |
| Q/L | 0.356 | ambiguous | 0.3505 | ambiguous | 0.225 | Stabilizing | 0.135 | N | 0.413 | neutral | N | 0.434726842 | None | None | N |
| Q/M | 0.5369 | ambiguous | 0.5231 | ambiguous | 0.387 | Stabilizing | 0.996 | D | 0.573 | neutral | None | None | None | None | N |
| Q/N | 0.8043 | likely_pathogenic | 0.7861 | pathogenic | -1.467 | Destabilizing | 0.999 | D | 0.55 | neutral | None | None | None | None | N |
| Q/P | 0.9836 | likely_pathogenic | 0.9804 | pathogenic | -0.101 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | N | 0.518038872 | None | None | N |
| Q/R | 0.3267 | likely_benign | 0.2786 | benign | -0.676 | Destabilizing | 0.997 | D | 0.525 | neutral | N | 0.427166151 | None | None | N |
| Q/S | 0.6268 | likely_pathogenic | 0.6047 | pathogenic | -1.554 | Destabilizing | 0.998 | D | 0.457 | neutral | None | None | None | None | N |
| Q/T | 0.5291 | ambiguous | 0.4725 | ambiguous | -1.139 | Destabilizing | 0.993 | D | 0.595 | neutral | None | None | None | None | N |
| Q/V | 0.4047 | ambiguous | 0.3729 | ambiguous | -0.101 | Destabilizing | 0.971 | D | 0.591 | neutral | None | None | None | None | N |
| Q/W | 0.9266 | likely_pathogenic | 0.9027 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| Q/Y | 0.8661 | likely_pathogenic | 0.8503 | pathogenic | -0.271 | Destabilizing | 0.999 | D | 0.707 | prob.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.