Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27883 | 83872;83873;83874 | chr2:178562485;178562484;178562483 | chr2:179427212;179427211;179427210 |
| N2AB | 26242 | 78949;78950;78951 | chr2:178562485;178562484;178562483 | chr2:179427212;179427211;179427210 |
| N2A | 25315 | 76168;76169;76170 | chr2:178562485;178562484;178562483 | chr2:179427212;179427211;179427210 |
| N2B | 18818 | 56677;56678;56679 | chr2:178562485;178562484;178562483 | chr2:179427212;179427211;179427210 |
| Novex-1 | 18943 | 57052;57053;57054 | chr2:178562485;178562484;178562483 | chr2:179427212;179427211;179427210 |
| Novex-2 | 19010 | 57253;57254;57255 | chr2:178562485;178562484;178562483 | chr2:179427212;179427211;179427210 |
| 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/M | None | None | 0.999 | N | 0.666 | 0.342 | 0.334659703779 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| K/N | rs878854337  |
-0.971 | 0.896 | N | 0.39 | 0.13 | 0.21737058555 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.72E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs878854337 |
-0.971 | 0.896 | N | 0.39 | 0.13 | 0.21737058555 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs878854337 |
-0.971 | 0.896 | N | 0.39 | 0.13 | 0.21737058555 | gnomAD-4.0.0 | 5.12743E-06 | None | None | None | None | N | None | 0 | 6.78426E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.2356 | likely_benign | 0.2598 | benign | -0.89 | Destabilizing | 0.702 | D | 0.465 | neutral | None | None | None | None | N |
| K/C | 0.4407 | ambiguous | 0.4565 | ambiguous | -0.959 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| K/D | 0.6632 | likely_pathogenic | 0.7098 | pathogenic | -0.915 | Destabilizing | 0.919 | D | 0.507 | neutral | None | None | None | None | N |
| K/E | 0.2024 | likely_benign | 0.2432 | benign | -0.692 | Destabilizing | 0.896 | D | 0.433 | neutral | N | 0.440538093 | None | None | N |
| K/F | 0.6427 | likely_pathogenic | 0.6836 | pathogenic | -0.2 | Destabilizing | 0.996 | D | 0.74 | deleterious | None | None | None | None | N |
| K/G | 0.3694 | ambiguous | 0.4112 | ambiguous | -1.343 | Destabilizing | 0.851 | D | 0.567 | neutral | None | None | None | None | N |
| K/H | 0.2424 | likely_benign | 0.2601 | benign | -1.561 | Destabilizing | 0.999 | D | 0.671 | neutral | None | None | None | None | N |
| K/I | 0.2793 | likely_benign | 0.3214 | benign | 0.352 | Stabilizing | 0.988 | D | 0.721 | prob.delet. | None | None | None | None | N |
| K/L | 0.256 | likely_benign | 0.2887 | benign | 0.352 | Stabilizing | 0.919 | D | 0.577 | neutral | None | None | None | None | N |
| K/M | 0.16 | likely_benign | 0.1785 | benign | 0.003 | Stabilizing | 0.999 | D | 0.666 | neutral | N | 0.501338623 | None | None | N |
| K/N | 0.4045 | ambiguous | 0.4577 | ambiguous | -1.17 | Destabilizing | 0.896 | D | 0.39 | neutral | N | 0.487561249 | None | None | N |
| K/P | 0.951 | likely_pathogenic | 0.9577 | pathogenic | -0.035 | Destabilizing | 0.988 | D | 0.613 | neutral | None | None | None | None | N |
| K/Q | 0.0993 | likely_benign | 0.1077 | benign | -0.971 | Destabilizing | 0.984 | D | 0.5 | neutral | N | 0.463510953 | None | None | N |
| K/R | 0.0763 | likely_benign | 0.0784 | benign | -0.889 | Destabilizing | 0.896 | D | 0.424 | neutral | N | 0.464953748 | None | None | N |
| K/S | 0.2563 | likely_benign | 0.2906 | benign | -1.722 | Destabilizing | 0.06 | N | 0.255 | neutral | None | None | None | None | N |
| K/T | 0.1048 | likely_benign | 0.1218 | benign | -1.266 | Destabilizing | 0.811 | D | 0.484 | neutral | N | 0.409484467 | None | None | N |
| K/V | 0.2581 | likely_benign | 0.2844 | benign | -0.035 | Destabilizing | 0.919 | D | 0.62 | neutral | None | None | None | None | N |
| K/W | 0.6822 | likely_pathogenic | 0.711 | pathogenic | -0.221 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| K/Y | 0.534 | ambiguous | 0.5639 | ambiguous | 0.121 | Stabilizing | 0.996 | D | 0.717 | 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.