Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31994 | 96205;96206;96207 | chr2:178544249;178544248;178544247 | chr2:179408976;179408975;179408974 |
| N2AB | 30353 | 91282;91283;91284 | chr2:178544249;178544248;178544247 | chr2:179408976;179408975;179408974 |
| N2A | 29426 | 88501;88502;88503 | chr2:178544249;178544248;178544247 | chr2:179408976;179408975;179408974 |
| N2B | 22929 | 69010;69011;69012 | chr2:178544249;178544248;178544247 | chr2:179408976;179408975;179408974 |
| Novex-1 | 23054 | 69385;69386;69387 | chr2:178544249;178544248;178544247 | chr2:179408976;179408975;179408974 |
| Novex-2 | 23121 | 69586;69587;69588 | chr2:178544249;178544248;178544247 | chr2:179408976;179408975;179408974 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1317294203  |
-1.336 | 0.959 | D | 0.707 | 0.35 | 0.301122078929 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1317294203 |
-1.336 | 0.959 | D | 0.707 | 0.35 | 0.301122078929 | gnomAD-4.0.0 | 6.57168E-06 | None | None | None | None | N | None | 2.41301E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs761895710 |
-0.831 | 0.998 | N | 0.772 | 0.455 | 0.296329037015 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.9E-06 | 0 |
| S/R | rs761895710 |
-0.831 | 0.998 | N | 0.772 | 0.455 | 0.296329037015 | gnomAD-4.0.0 | 1.36846E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99507E-07 | 1.15939E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.3727 | ambiguous | 0.3746 | ambiguous | -0.825 | Destabilizing | 0.579 | D | 0.575 | neutral | None | None | None | None | N |
| S/C | 0.6143 | likely_pathogenic | 0.6334 | pathogenic | -0.701 | Destabilizing | 0.999 | D | 0.757 | deleterious | D | 0.527887277 | None | None | N |
| S/D | 0.9571 | likely_pathogenic | 0.9588 | pathogenic | -1.141 | Destabilizing | 0.969 | D | 0.707 | prob.neutral | None | None | None | None | N |
| S/E | 0.988 | likely_pathogenic | 0.9865 | pathogenic | -1.049 | Destabilizing | 0.99 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/F | 0.9921 | likely_pathogenic | 0.9904 | pathogenic | -0.658 | Destabilizing | 0.997 | D | 0.816 | deleterious | None | None | None | None | N |
| S/G | 0.0712 | likely_benign | 0.0724 | benign | -1.158 | Destabilizing | 0.005 | N | 0.445 | neutral | N | 0.422365259 | None | None | N |
| S/H | 0.9797 | likely_pathogenic | 0.9798 | pathogenic | -1.542 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | N |
| S/I | 0.9896 | likely_pathogenic | 0.9869 | pathogenic | -0.013 | Destabilizing | 0.996 | D | 0.825 | deleterious | N | 0.516112897 | None | None | N |
| S/K | 0.9971 | likely_pathogenic | 0.9969 | pathogenic | -0.8 | Destabilizing | 0.969 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/L | 0.9314 | likely_pathogenic | 0.9248 | pathogenic | -0.013 | Destabilizing | 0.969 | D | 0.8 | deleterious | None | None | None | None | N |
| S/M | 0.9571 | likely_pathogenic | 0.9498 | pathogenic | 0.096 | Stabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | N |
| S/N | 0.8535 | likely_pathogenic | 0.8612 | pathogenic | -1.08 | Destabilizing | 0.959 | D | 0.707 | prob.neutral | D | 0.526873318 | None | None | N |
| S/P | 0.9861 | likely_pathogenic | 0.9854 | pathogenic | -0.249 | Destabilizing | 0.997 | D | 0.763 | deleterious | None | None | None | None | N |
| S/Q | 0.9857 | likely_pathogenic | 0.9849 | pathogenic | -1.077 | Destabilizing | 0.997 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/R | 0.9951 | likely_pathogenic | 0.9947 | pathogenic | -0.85 | Destabilizing | 0.998 | D | 0.772 | deleterious | N | 0.515605918 | None | None | N |
| S/T | 0.6174 | likely_pathogenic | 0.5876 | pathogenic | -0.907 | Destabilizing | 0.959 | D | 0.7 | prob.neutral | N | 0.4963988 | None | None | N |
| S/V | 0.979 | likely_pathogenic | 0.9764 | pathogenic | -0.249 | Destabilizing | 0.997 | D | 0.801 | deleterious | None | None | None | None | N |
| S/W | 0.9905 | likely_pathogenic | 0.9882 | pathogenic | -0.762 | Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | None | N |
| S/Y | 0.983 | likely_pathogenic | 0.9802 | pathogenic | -0.439 | Destabilizing | 0.997 | D | 0.812 | 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.