Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33187 | 99784;99785;99786 | chr2:178537648;178537647;178537646 | chr2:179402375;179402374;179402373 |
| N2AB | 31546 | 94861;94862;94863 | chr2:178537648;178537647;178537646 | chr2:179402375;179402374;179402373 |
| N2A | 30619 | 92080;92081;92082 | chr2:178537648;178537647;178537646 | chr2:179402375;179402374;179402373 |
| N2B | 24122 | 72589;72590;72591 | chr2:178537648;178537647;178537646 | chr2:179402375;179402374;179402373 |
| Novex-1 | 24247 | 72964;72965;72966 | chr2:178537648;178537647;178537646 | chr2:179402375;179402374;179402373 |
| Novex-2 | 24314 | 73165;73166;73167 | chr2:178537648;178537647;178537646 | chr2:179402375;179402374;179402373 |
| 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/R | rs560306385  |
-0.526 | 0.951 | N | 0.287 | 0.152 | 0.344017737713 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.95E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs560306385 |
-0.526 | 0.951 | N | 0.287 | 0.152 | 0.344017737713 | gnomAD-4.0.0 | 6.84231E-07 | None | None | None | None | N | None | 0 | 0 | None | 3.8276E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs560306385 |
-1.062 | 1.0 | N | 0.743 | 0.421 | 0.364141725642 | gnomAD-2.1.1 | 4.28E-05 | None | None | None | None | N | None | 4.14E-05 | 1.41555E-04 | None | 0 | 0 | None | 0 | None | 0 | 3.12E-05 | 2.81057E-04 |
| K/T | rs560306385 |
-1.062 | 1.0 | N | 0.743 | 0.421 | 0.364141725642 | gnomAD-3.1.2 | 1.97187E-04 | None | None | None | None | N | None | 9.65E-05 | 1.5713E-03 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.79846E-04 |
| K/T | rs560306385 |
-1.062 | 1.0 | N | 0.743 | 0.421 | 0.364141725642 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| K/T | rs560306385 |
-1.062 | 1.0 | N | 0.743 | 0.421 | 0.364141725642 | gnomAD-4.0.0 | 3.40821E-05 | None | None | None | None | N | None | 5.33191E-05 | 6.49957E-04 | None | 0 | 0 | None | 0 | 0 | 5.93345E-06 | 0 | 8.0041E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.6303 | likely_pathogenic | 0.6748 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | N |
| K/C | 0.8198 | likely_pathogenic | 0.8709 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| K/D | 0.8224 | likely_pathogenic | 0.8406 | pathogenic | 0.235 | Stabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| K/E | 0.3767 | ambiguous | 0.4056 | ambiguous | 0.291 | Stabilizing | 0.999 | D | 0.531 | neutral | N | 0.487476396 | None | None | N |
| K/F | 0.8937 | likely_pathogenic | 0.9138 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| K/G | 0.7784 | likely_pathogenic | 0.8344 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| K/H | 0.4007 | ambiguous | 0.4172 | ambiguous | -1.01 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| K/I | 0.5689 | likely_pathogenic | 0.5965 | pathogenic | 0.342 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| K/L | 0.5663 | likely_pathogenic | 0.5995 | pathogenic | 0.342 | Stabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| K/M | 0.4351 | ambiguous | 0.4719 | ambiguous | 0.261 | Stabilizing | 1.0 | D | 0.749 | deleterious | D | 0.52873116 | None | None | N |
| K/N | 0.6215 | likely_pathogenic | 0.6294 | pathogenic | -0.047 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.475896753 | None | None | N |
| K/P | 0.9143 | likely_pathogenic | 0.9351 | pathogenic | 0.138 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| K/Q | 0.2103 | likely_benign | 0.236 | benign | -0.219 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | N | 0.492962361 | None | None | N |
| K/R | 0.0902 | likely_benign | 0.0976 | benign | -0.271 | Destabilizing | 0.951 | D | 0.287 | neutral | N | 0.452097173 | None | None | N |
| K/S | 0.6318 | likely_pathogenic | 0.682 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.607 | neutral | None | None | None | None | N |
| K/T | 0.2787 | likely_benign | 0.3139 | benign | -0.486 | Destabilizing | 1.0 | D | 0.743 | deleterious | N | 0.446843282 | None | None | N |
| K/V | 0.4982 | ambiguous | 0.5302 | ambiguous | 0.138 | Stabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| K/W | 0.8901 | likely_pathogenic | 0.9268 | pathogenic | -0.239 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| K/Y | 0.7803 | likely_pathogenic | 0.8082 | pathogenic | 0.091 | Stabilizing | 1.0 | D | 0.795 | 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.