Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23973 | 72142;72143;72144 | chr2:178574215;178574214;178574213 | chr2:179438942;179438941;179438940 |
| N2AB | 22332 | 67219;67220;67221 | chr2:178574215;178574214;178574213 | chr2:179438942;179438941;179438940 |
| N2A | 21405 | 64438;64439;64440 | chr2:178574215;178574214;178574213 | chr2:179438942;179438941;179438940 |
| N2B | 14908 | 44947;44948;44949 | chr2:178574215;178574214;178574213 | chr2:179438942;179438941;179438940 |
| Novex-1 | 15033 | 45322;45323;45324 | chr2:178574215;178574214;178574213 | chr2:179438942;179438941;179438940 |
| Novex-2 | 15100 | 45523;45524;45525 | chr2:178574215;178574214;178574213 | chr2:179438942;179438941;179438940 |
| 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/E | rs1709270995  |
None | 0.999 | N | 0.591 | 0.47 | 0.251116650651 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 3.66327E-05 |
| K/N | rs758579992 |
-0.117 | 1.0 | N | 0.734 | 0.355 | 0.166414681773 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/N | rs758579992 |
-0.117 | 1.0 | N | 0.734 | 0.355 | 0.166414681773 | gnomAD-4.0.0 | 1.59217E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43291E-05 | 0 |
| K/R | rs1709269471 |
None | 0.999 | N | 0.532 | 0.265 | 0.32714864917 | gnomAD-4.0.0 | 1.36875E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.319E-05 | 0 |
| K/T | rs1709269471 |
None | 1.0 | N | 0.801 | 0.535 | 0.331619326243 | gnomAD-4.0.0 | 2.05313E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6989E-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 | 0.9547 | likely_pathogenic | 0.961 | pathogenic | -0.586 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | None | None | None | None | N |
| K/C | 0.9774 | likely_pathogenic | 0.9796 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| K/D | 0.9925 | likely_pathogenic | 0.9924 | pathogenic | 0.12 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| K/E | 0.9246 | likely_pathogenic | 0.9344 | pathogenic | 0.235 | Stabilizing | 0.999 | D | 0.591 | neutral | N | 0.51095261 | None | None | N |
| K/F | 0.9915 | likely_pathogenic | 0.9934 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| K/G | 0.9776 | likely_pathogenic | 0.9798 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| K/H | 0.821 | likely_pathogenic | 0.8362 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| K/I | 0.9415 | likely_pathogenic | 0.952 | pathogenic | 0.34 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| K/L | 0.8804 | likely_pathogenic | 0.9011 | pathogenic | 0.34 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| K/M | 0.8561 | likely_pathogenic | 0.8795 | pathogenic | 0.135 | Stabilizing | 1.0 | D | 0.759 | deleterious | N | 0.497221721 | None | None | N |
| K/N | 0.98 | likely_pathogenic | 0.9819 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | N | 0.485331983 | None | None | N |
| K/P | 0.9241 | likely_pathogenic | 0.9274 | pathogenic | 0.061 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| K/Q | 0.6125 | likely_pathogenic | 0.6608 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.470012432 | None | None | N |
| K/R | 0.1074 | likely_benign | 0.1185 | benign | -0.5 | Destabilizing | 0.999 | D | 0.532 | neutral | N | 0.519268236 | None | None | N |
| K/S | 0.9787 | likely_pathogenic | 0.9812 | pathogenic | -1.092 | Destabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
| K/T | 0.9035 | likely_pathogenic | 0.911 | pathogenic | -0.767 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.513456984 | None | None | N |
| K/V | 0.9235 | likely_pathogenic | 0.9359 | pathogenic | 0.061 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| K/W | 0.9828 | likely_pathogenic | 0.9868 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| K/Y | 0.9705 | likely_pathogenic | 0.9745 | pathogenic | 0.153 | Stabilizing | 1.0 | D | 0.791 | 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.