Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34264 | 103015;103016;103017 | chr2:178533825;178533824;178533823 | chr2:179398552;179398551;179398550 |
| N2AB | 32623 | 98092;98093;98094 | chr2:178533825;178533824;178533823 | chr2:179398552;179398551;179398550 |
| N2A | 31696 | 95311;95312;95313 | chr2:178533825;178533824;178533823 | chr2:179398552;179398551;179398550 |
| N2B | 25199 | 75820;75821;75822 | chr2:178533825;178533824;178533823 | chr2:179398552;179398551;179398550 |
| Novex-1 | 25324 | 76195;76196;76197 | chr2:178533825;178533824;178533823 | chr2:179398552;179398551;179398550 |
| Novex-2 | 25391 | 76396;76397;76398 | chr2:178533825;178533824;178533823 | chr2:179398552;179398551;179398550 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs773984912  |
-1.786 | 0.997 | N | 0.72 | 0.243 | 0.464698922459 | gnomAD-2.1.1 | 3.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 6.2E-05 | 0 |
| L/F | rs773984912 |
-1.786 | 0.997 | N | 0.72 | 0.243 | 0.464698922459 | gnomAD-4.0.0 | 1.84722E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.24851E-05 | 1.15931E-05 | 1.65651E-05 |
| L/P | None | None | 0.999 | N | 0.865 | 0.395 | 0.566992445632 | gnomAD-4.0.0 | 1.59096E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| L/V | None | None | 0.989 | N | 0.501 | 0.229 | 0.448794319169 | gnomAD-4.0.0 | 6.84155E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99404E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9265 | likely_pathogenic | 0.9358 | pathogenic | -2.062 | Highly Destabilizing | 0.983 | D | 0.627 | neutral | None | None | None | None | N |
| L/C | 0.9403 | likely_pathogenic | 0.9574 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| L/D | 0.9993 | likely_pathogenic | 0.9988 | pathogenic | -2.558 | Highly Destabilizing | 0.995 | D | 0.855 | deleterious | None | None | None | None | N |
| L/E | 0.9958 | likely_pathogenic | 0.994 | pathogenic | -2.272 | Highly Destabilizing | 0.995 | D | 0.846 | deleterious | None | None | None | None | N |
| L/F | 0.8644 | likely_pathogenic | 0.8609 | pathogenic | -1.165 | Destabilizing | 0.997 | D | 0.72 | prob.delet. | N | 0.445953699 | None | None | N |
| L/G | 0.9912 | likely_pathogenic | 0.9921 | pathogenic | -2.63 | Highly Destabilizing | 0.995 | D | 0.847 | deleterious | None | None | None | None | N |
| L/H | 0.9928 | likely_pathogenic | 0.9905 | pathogenic | -2.253 | Highly Destabilizing | 0.413 | N | 0.621 | neutral | N | 0.502672774 | None | None | N |
| L/I | 0.3424 | ambiguous | 0.3638 | ambiguous | -0.39 | Destabilizing | 0.989 | D | 0.563 | neutral | N | 0.444294631 | None | None | N |
| L/K | 0.9943 | likely_pathogenic | 0.9905 | pathogenic | -1.411 | Destabilizing | 0.995 | D | 0.801 | deleterious | None | None | None | None | N |
| L/M | 0.5025 | ambiguous | 0.53 | ambiguous | -0.394 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| L/N | 0.9947 | likely_pathogenic | 0.993 | pathogenic | -1.945 | Destabilizing | 0.995 | D | 0.85 | deleterious | None | None | None | None | N |
| L/P | 0.9227 | likely_pathogenic | 0.9077 | pathogenic | -0.933 | Destabilizing | 0.999 | D | 0.865 | deleterious | N | 0.463656442 | None | None | N |
| L/Q | 0.9852 | likely_pathogenic | 0.9797 | pathogenic | -1.675 | Destabilizing | 0.995 | D | 0.825 | deleterious | None | None | None | None | N |
| L/R | 0.9869 | likely_pathogenic | 0.9812 | pathogenic | -1.478 | Destabilizing | 0.993 | D | 0.81 | deleterious | N | 0.4792886 | None | None | N |
| L/S | 0.9889 | likely_pathogenic | 0.9898 | pathogenic | -2.558 | Highly Destabilizing | 0.995 | D | 0.778 | deleterious | None | None | None | None | N |
| L/T | 0.9572 | likely_pathogenic | 0.9598 | pathogenic | -2.111 | Highly Destabilizing | 0.998 | D | 0.748 | deleterious | None | None | None | None | N |
| L/V | 0.3857 | ambiguous | 0.4334 | ambiguous | -0.933 | Destabilizing | 0.989 | D | 0.501 | neutral | N | 0.459107203 | None | None | N |
| L/W | 0.9879 | likely_pathogenic | 0.986 | pathogenic | -1.581 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| L/Y | 0.9922 | likely_pathogenic | 0.9898 | pathogenic | -1.22 | Destabilizing | 0.995 | D | 0.781 | 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.