Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28376 | 85351;85352;85353 | chr2:178561006;178561005;178561004 | chr2:179425733;179425732;179425731 |
| N2AB | 26735 | 80428;80429;80430 | chr2:178561006;178561005;178561004 | chr2:179425733;179425732;179425731 |
| N2A | 25808 | 77647;77648;77649 | chr2:178561006;178561005;178561004 | chr2:179425733;179425732;179425731 |
| N2B | 19311 | 58156;58157;58158 | chr2:178561006;178561005;178561004 | chr2:179425733;179425732;179425731 |
| Novex-1 | 19436 | 58531;58532;58533 | chr2:178561006;178561005;178561004 | chr2:179425733;179425732;179425731 |
| Novex-2 | 19503 | 58732;58733;58734 | chr2:178561006;178561005;178561004 | chr2:179425733;179425732;179425731 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/Q | rs755843409  |
-0.289 | 0.967 | N | 0.653 | 0.128 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| K/Q | rs755843409 |
-0.289 | 0.967 | N | 0.653 | 0.128 | None | 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/Q | rs755843409 |
-0.289 | 0.967 | N | 0.653 | 0.128 | None | gnomAD-4.0.0 | 2.04492E-05 | None | None | None | None | N | None | 0 | 3.33444E-05 | None | 0 | 0 | None | 0 | 0 | 2.54278E-05 | 0 | 1.60108E-05 |
| K/T | None | None | 0.967 | N | 0.705 | 0.306 | 0.177238962908 | gnomAD-4.0.0 | 7.20195E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.87503E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4259 | ambiguous | 0.4018 | ambiguous | -0.395 | Destabilizing | 0.916 | D | 0.59 | neutral | None | None | None | None | N |
| K/C | 0.5936 | likely_pathogenic | 0.5834 | pathogenic | -0.603 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | None | None | None | None | N |
| K/D | 0.7122 | likely_pathogenic | 0.6869 | pathogenic | -0.039 | Destabilizing | 0.987 | D | 0.719 | prob.delet. | None | None | None | None | N |
| K/E | 0.2206 | likely_benign | 0.1963 | benign | 0.094 | Stabilizing | 0.892 | D | 0.547 | neutral | N | 0.475986313 | None | None | N |
| K/F | 0.7944 | likely_pathogenic | 0.7764 | pathogenic | 0.007 | Stabilizing | 0.999 | D | 0.694 | prob.neutral | None | None | None | None | N |
| K/G | 0.623 | likely_pathogenic | 0.5853 | pathogenic | -0.764 | Destabilizing | 0.975 | D | 0.672 | neutral | None | None | None | None | N |
| K/H | 0.2476 | likely_benign | 0.247 | benign | -0.924 | Destabilizing | 0.997 | D | 0.705 | prob.neutral | None | None | None | None | N |
| K/I | 0.3192 | likely_benign | 0.3051 | benign | 0.563 | Stabilizing | 0.987 | D | 0.707 | prob.neutral | None | None | None | None | N |
| K/L | 0.3773 | ambiguous | 0.347 | ambiguous | 0.563 | Stabilizing | 0.975 | D | 0.672 | neutral | None | None | None | None | N |
| K/M | 0.2162 | likely_benign | 0.2027 | benign | 0.148 | Stabilizing | 0.999 | D | 0.698 | prob.neutral | N | 0.473226938 | None | None | N |
| K/N | 0.4668 | ambiguous | 0.4335 | ambiguous | -0.526 | Destabilizing | 0.967 | D | 0.645 | neutral | N | 0.512408473 | None | None | N |
| K/P | 0.9126 | likely_pathogenic | 0.8949 | pathogenic | 0.274 | Stabilizing | 0.996 | D | 0.728 | prob.delet. | None | None | None | None | N |
| K/Q | 0.1201 | likely_benign | 0.1147 | benign | -0.477 | Destabilizing | 0.967 | D | 0.653 | neutral | N | 0.497324378 | None | None | N |
| K/R | 0.0786 | likely_benign | 0.0796 | benign | -0.533 | Destabilizing | 0.025 | N | 0.271 | neutral | N | 0.409550677 | None | None | N |
| K/S | 0.4582 | ambiguous | 0.4297 | ambiguous | -1.108 | Destabilizing | 0.916 | D | 0.583 | neutral | None | None | None | None | N |
| K/T | 0.1518 | likely_benign | 0.1498 | benign | -0.765 | Destabilizing | 0.967 | D | 0.705 | prob.neutral | N | 0.433520828 | None | None | N |
| K/V | 0.2787 | likely_benign | 0.2819 | benign | 0.274 | Stabilizing | 0.987 | D | 0.711 | prob.delet. | None | None | None | None | N |
| K/W | 0.743 | likely_pathogenic | 0.7232 | pathogenic | 0.054 | Stabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/Y | 0.6222 | likely_pathogenic | 0.5907 | pathogenic | 0.346 | Stabilizing | 0.996 | D | 0.711 | prob.delet. | 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.