Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14735 | 44428;44429;44430 | chr2:178630319;178630318;178630317 | chr2:179495046;179495045;179495044 |
| N2AB | 13094 | 39505;39506;39507 | chr2:178630319;178630318;178630317 | chr2:179495046;179495045;179495044 |
| N2A | 12167 | 36724;36725;36726 | chr2:178630319;178630318;178630317 | chr2:179495046;179495045;179495044 |
| N2B | 5670 | 17233;17234;17235 | chr2:178630319;178630318;178630317 | chr2:179495046;179495045;179495044 |
| Novex-1 | 5795 | 17608;17609;17610 | chr2:178630319;178630318;178630317 | chr2:179495046;179495045;179495044 |
| Novex-2 | 5862 | 17809;17810;17811 | chr2:178630319;178630318;178630317 | chr2:179495046;179495045;179495044 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | 0.997 | N | 0.607 | 0.385 | 0.260249123532 | gnomAD-4.0.0 | 1.59319E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86113E-06 | 0 | 0 |
| N/K | rs773518259  |
0.046 | 0.999 | N | 0.685 | 0.279 | 0.203808441222 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| N/K | rs773518259 |
0.046 | 0.999 | N | 0.685 | 0.279 | 0.203808441222 | gnomAD-4.0.0 | 3.18619E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.72207E-06 | 0 | 0 |
| N/S | rs763464756 |
-0.333 | 0.997 | N | 0.564 | 0.357 | 0.246215685461 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| N/S | rs763464756 |
-0.333 | 0.997 | N | 0.564 | 0.357 | 0.246215685461 | gnomAD-4.0.0 | 4.79188E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29826E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.4295 | ambiguous | 0.4558 | ambiguous | -0.244 | Destabilizing | 0.999 | D | 0.687 | prob.delet. | None | None | None | None | N |
| N/C | 0.4007 | ambiguous | 0.4326 | ambiguous | 0.577 | Stabilizing | 1.0 | D | 0.688 | prob.delet. | None | None | None | None | N |
| N/D | 0.1878 | likely_benign | 0.2072 | benign | -0.838 | Destabilizing | 0.997 | D | 0.607 | neutral | N | 0.470712081 | None | None | N |
| N/E | 0.6018 | likely_pathogenic | 0.6452 | pathogenic | -0.836 | Destabilizing | 0.998 | D | 0.679 | prob.neutral | None | None | None | None | N |
| N/F | 0.6813 | likely_pathogenic | 0.7301 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| N/G | 0.3337 | likely_benign | 0.3688 | ambiguous | -0.476 | Destabilizing | 0.998 | D | 0.53 | neutral | None | None | None | None | N |
| N/H | 0.0942 | likely_benign | 0.1048 | benign | -0.656 | Destabilizing | 0.999 | D | 0.643 | neutral | N | 0.501221095 | None | None | N |
| N/I | 0.6273 | likely_pathogenic | 0.6447 | pathogenic | 0.296 | Stabilizing | 0.999 | D | 0.737 | deleterious | D | 0.543468961 | None | None | N |
| N/K | 0.4023 | ambiguous | 0.4508 | ambiguous | 0.028 | Stabilizing | 0.999 | D | 0.685 | prob.delet. | N | 0.432229812 | None | None | N |
| N/L | 0.5086 | ambiguous | 0.5486 | ambiguous | 0.296 | Stabilizing | 0.999 | D | 0.686 | prob.delet. | None | None | None | None | N |
| N/M | 0.6699 | likely_pathogenic | 0.7068 | pathogenic | 0.994 | Stabilizing | 1.0 | D | 0.739 | deleterious | None | None | None | None | N |
| N/P | 0.9434 | likely_pathogenic | 0.9246 | pathogenic | 0.144 | Stabilizing | 0.999 | D | 0.735 | deleterious | None | None | None | None | N |
| N/Q | 0.4054 | ambiguous | 0.4589 | ambiguous | -0.577 | Destabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | N |
| N/R | 0.3562 | ambiguous | 0.4021 | ambiguous | 0.132 | Stabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| N/S | 0.119 | likely_benign | 0.1253 | benign | -0.201 | Destabilizing | 0.997 | D | 0.564 | neutral | N | 0.436994899 | None | None | N |
| N/T | 0.3653 | ambiguous | 0.3843 | ambiguous | -0.065 | Destabilizing | 0.997 | D | 0.671 | prob.neutral | N | 0.50043375 | None | None | N |
| N/V | 0.6152 | likely_pathogenic | 0.6457 | pathogenic | 0.144 | Stabilizing | 0.999 | D | 0.671 | prob.neutral | None | None | None | None | N |
| N/W | 0.8785 | likely_pathogenic | 0.9029 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.654 | prob.neutral | None | None | None | None | N |
| N/Y | 0.2224 | likely_benign | 0.2617 | benign | -0.185 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.541727811 | 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.