Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2467 | 7624;7625;7626 | chr2:178773657;178773656;178773655 | chr2:179638384;179638383;179638382 |
| N2AB | 2467 | 7624;7625;7626 | chr2:178773657;178773656;178773655 | chr2:179638384;179638383;179638382 |
| N2A | 2467 | 7624;7625;7626 | chr2:178773657;178773656;178773655 | chr2:179638384;179638383;179638382 |
| N2B | 2421 | 7486;7487;7488 | chr2:178773657;178773656;178773655 | chr2:179638384;179638383;179638382 |
| Novex-1 | 2421 | 7486;7487;7488 | chr2:178773657;178773656;178773655 | chr2:179638384;179638383;179638382 |
| Novex-2 | 2421 | 7486;7487;7488 | chr2:178773657;178773656;178773655 | chr2:179638384;179638383;179638382 |
| Novex-3 | 2467 | 7624;7625;7626 | chr2:178773657;178773656;178773655 | chr2:179638384;179638383;179638382 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs1362423521  |
-1.243 | 0.999 | N | 0.557 | 0.551 | 0.418964662724 | gnomAD-2.1.1 | 1.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.11E-05 | 0 |
| K/E | rs1362423521 |
-1.243 | 0.999 | N | 0.557 | 0.551 | 0.418964662724 | 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 |
| K/E | rs1362423521 |
-1.243 | 0.999 | N | 0.557 | 0.551 | 0.418964662724 | gnomAD-4.0.0 | 6.19603E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47478E-06 | 0 | 0 |
| K/N | rs757495201 |
None | 1.0 | D | 0.752 | 0.439 | 0.202086224978 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| K/N | rs757495201 |
None | 1.0 | D | 0.752 | 0.439 | 0.202086224978 | 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 |
| K/N | rs757495201 |
None | 1.0 | D | 0.752 | 0.439 | 0.202086224978 | gnomAD-4.0.0 | 1.85889E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54245E-06 | 0 | 0 |
| K/R | rs1184349328 |
-0.684 | 0.999 | N | 0.489 | 0.451 | 0.373173300195 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/R | rs1184349328 |
-0.684 | 0.999 | N | 0.489 | 0.451 | 0.373173300195 | gnomAD-4.0.0 | 1.59074E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6696 | likely_pathogenic | 0.6921 | pathogenic | -0.643 | Destabilizing | 0.999 | D | 0.654 | neutral | None | None | None | None | N |
| K/C | 0.8937 | likely_pathogenic | 0.9009 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| K/D | 0.8393 | likely_pathogenic | 0.8512 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| K/E | 0.4061 | ambiguous | 0.4342 | ambiguous | -0.737 | Destabilizing | 0.999 | D | 0.557 | neutral | N | 0.491459553 | None | None | N |
| K/F | 0.9442 | likely_pathogenic | 0.9497 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| K/G | 0.8292 | likely_pathogenic | 0.8427 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| K/H | 0.5296 | ambiguous | 0.5478 | ambiguous | -1.358 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| K/I | 0.6158 | likely_pathogenic | 0.64 | pathogenic | 0.294 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| K/L | 0.6837 | likely_pathogenic | 0.7018 | pathogenic | 0.294 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| K/M | 0.4572 | ambiguous | 0.4812 | ambiguous | 0.202 | Stabilizing | 1.0 | D | 0.765 | deleterious | D | 0.598886574 | None | None | N |
| K/N | 0.7122 | likely_pathogenic | 0.7347 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.752 | deleterious | D | 0.552595614 | None | None | N |
| K/P | 0.9643 | likely_pathogenic | 0.9677 | pathogenic | 0.011 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| K/Q | 0.271 | likely_benign | 0.289 | benign | -1.054 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.504313917 | None | None | N |
| K/R | 0.1122 | likely_benign | 0.1171 | benign | -0.838 | Destabilizing | 0.999 | D | 0.489 | neutral | N | 0.513098491 | None | None | N |
| K/S | 0.7036 | likely_pathogenic | 0.7217 | pathogenic | -1.498 | Destabilizing | 0.999 | D | 0.586 | neutral | None | None | None | None | N |
| K/T | 0.3447 | ambiguous | 0.3635 | ambiguous | -1.194 | Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.508448647 | None | None | N |
| K/V | 0.5643 | likely_pathogenic | 0.5848 | pathogenic | 0.011 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| K/W | 0.9367 | likely_pathogenic | 0.9425 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| K/Y | 0.8746 | likely_pathogenic | 0.8859 | pathogenic | 0.039 | Stabilizing | 1.0 | D | 0.802 | deleterious | 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.