Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10085 | 30478;30479;30480 | chr2:178702634;178702633;178702632 | chr2:179567361;179567360;179567359 |
| N2AB | 9768 | 29527;29528;29529 | chr2:178702634;178702633;178702632 | chr2:179567361;179567360;179567359 |
| N2A | 8841 | 26746;26747;26748 | chr2:178702634;178702633;178702632 | chr2:179567361;179567360;179567359 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | rs1057519237  |
0.258 | 0.78 | None | 0.532 | 0.343 | 0.250579442822 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| Q/E | rs1057519237 |
0.258 | 0.78 | None | 0.532 | 0.343 | 0.250579442822 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-06 | 0 | 0 |
| Q/H | rs1207728802 |
-0.071 | 0.026 | None | 0.176 | 0.163 | 0.21737058555 | 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 |
| Q/H | rs1207728802 |
-0.071 | 0.026 | None | 0.176 | 0.163 | 0.21737058555 | 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 |
| Q/H | rs1207728802 |
-0.071 | 0.026 | None | 0.176 | 0.163 | 0.21737058555 | gnomAD-4.0.0 | 2.47864E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.3903E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.5939 | likely_pathogenic | 0.5918 | pathogenic | -0.296 | Destabilizing | 0.919 | D | 0.614 | neutral | None | None | None | None | N |
| Q/C | 0.9538 | likely_pathogenic | 0.9585 | pathogenic | 0.041 | Stabilizing | 0.999 | D | 0.679 | prob.neutral | None | None | None | None | N |
| Q/D | 0.8151 | likely_pathogenic | 0.797 | pathogenic | -0.024 | Destabilizing | 0.959 | D | 0.569 | neutral | None | None | None | None | N |
| Q/E | 0.1641 | likely_benign | 0.1647 | benign | -0.01 | Destabilizing | 0.78 | D | 0.532 | neutral | None | None | None | None | N |
| Q/F | 0.9761 | likely_pathogenic | 0.9799 | pathogenic | -0.358 | Destabilizing | 0.988 | D | 0.666 | neutral | None | None | None | None | N |
| Q/G | 0.645 | likely_pathogenic | 0.6019 | pathogenic | -0.532 | Destabilizing | 0.959 | D | 0.595 | neutral | None | None | None | None | N |
| Q/H | 0.5847 | likely_pathogenic | 0.5943 | pathogenic | -0.289 | Destabilizing | 0.026 | N | 0.176 | neutral | None | None | None | None | N |
| Q/I | 0.9132 | likely_pathogenic | 0.9377 | pathogenic | 0.251 | Stabilizing | 0.996 | D | 0.665 | neutral | None | None | None | None | N |
| Q/K | 0.2234 | likely_benign | 0.2225 | benign | -0.037 | Destabilizing | 0.896 | D | 0.63 | neutral | None | None | None | None | N |
| Q/L | 0.6331 | likely_pathogenic | 0.6687 | pathogenic | 0.251 | Stabilizing | 0.896 | D | 0.595 | neutral | None | None | None | None | N |
| Q/M | 0.8355 | likely_pathogenic | 0.8503 | pathogenic | 0.327 | Stabilizing | 0.996 | D | 0.602 | neutral | None | None | None | None | N |
| Q/N | 0.613 | likely_pathogenic | 0.5918 | pathogenic | -0.469 | Destabilizing | 0.919 | D | 0.603 | neutral | None | None | None | None | N |
| Q/P | 0.8507 | likely_pathogenic | 0.7896 | pathogenic | 0.099 | Stabilizing | 0.995 | D | 0.664 | neutral | None | None | None | None | N |
| Q/R | 0.2239 | likely_benign | 0.2278 | benign | 0.126 | Stabilizing | 0.896 | D | 0.626 | neutral | None | None | None | None | N |
| Q/S | 0.5413 | ambiguous | 0.4958 | ambiguous | -0.46 | Destabilizing | 0.919 | D | 0.576 | neutral | None | None | None | None | N |
| Q/T | 0.5467 | ambiguous | 0.5387 | ambiguous | -0.277 | Destabilizing | 0.959 | D | 0.633 | neutral | None | None | None | None | N |
| Q/V | 0.7778 | likely_pathogenic | 0.8213 | pathogenic | 0.099 | Stabilizing | 0.988 | D | 0.595 | neutral | None | None | None | None | N |
| Q/W | 0.9478 | likely_pathogenic | 0.9555 | pathogenic | -0.329 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | None | None | None | None | N |
| Q/Y | 0.9303 | likely_pathogenic | 0.9403 | pathogenic | -0.076 | Destabilizing | 0.976 | D | 0.633 | neutral | 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.