Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25995 | 78208;78209;78210 | chr2:178568149;178568148;178568147 | chr2:179432876;179432875;179432874 |
| N2AB | 24354 | 73285;73286;73287 | chr2:178568149;178568148;178568147 | chr2:179432876;179432875;179432874 |
| N2A | 23427 | 70504;70505;70506 | chr2:178568149;178568148;178568147 | chr2:179432876;179432875;179432874 |
| N2B | 16930 | 51013;51014;51015 | chr2:178568149;178568148;178568147 | chr2:179432876;179432875;179432874 |
| Novex-1 | 17055 | 51388;51389;51390 | chr2:178568149;178568148;178568147 | chr2:179432876;179432875;179432874 |
| Novex-2 | 17122 | 51589;51590;51591 | chr2:178568149;178568148;178568147 | chr2:179432876;179432875;179432874 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | None | None | 1.0 | D | 0.814 | 0.443 | 0.748405412012 | gnomAD-4.0.0 | 1.59181E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85935E-06 | 0 | 0 |
| G/D | rs745801476  |
-1.267 | 0.45 | N | 0.529 | 0.292 | 0.230578612272 | 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 |
| G/D | rs745801476 |
-1.267 | 0.45 | N | 0.529 | 0.292 | 0.230578612272 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs745801476 |
-1.267 | 0.45 | N | 0.529 | 0.292 | 0.230578612272 | gnomAD-4.0.0 | 6.57877E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47132E-05 | 0 | 0 |
| G/S | None | None | 0.997 | N | 0.693 | 0.327 | 0.233150807113 | gnomAD-4.0.0 | 1.59181E-06 | None | None | None | None | N | None | 0 | 2.28676E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs745801476 |
0.01 | 0.999 | N | 0.829 | 0.458 | 0.653206263661 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/V | rs745801476 |
0.01 | 0.999 | N | 0.829 | 0.458 | 0.653206263661 | gnomAD-4.0.0 | 1.36863E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99575E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3928 | ambiguous | 0.4064 | ambiguous | -0.771 | Destabilizing | 0.991 | D | 0.65 | neutral | N | 0.482320243 | None | None | N |
| G/C | 0.7131 | likely_pathogenic | 0.7242 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.532228916 | None | None | N |
| G/D | 0.9313 | likely_pathogenic | 0.9401 | pathogenic | -2.259 | Highly Destabilizing | 0.45 | N | 0.529 | neutral | N | 0.477320267 | None | None | N |
| G/E | 0.9357 | likely_pathogenic | 0.9441 | pathogenic | -2.195 | Highly Destabilizing | 0.996 | D | 0.79 | deleterious | None | None | None | None | N |
| G/F | 0.9739 | likely_pathogenic | 0.9758 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/H | 0.9618 | likely_pathogenic | 0.9698 | pathogenic | -1.893 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/I | 0.9371 | likely_pathogenic | 0.9493 | pathogenic | -0.008 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/K | 0.9749 | likely_pathogenic | 0.981 | pathogenic | -1.437 | Destabilizing | 0.998 | D | 0.802 | deleterious | None | None | None | None | N |
| G/L | 0.9295 | likely_pathogenic | 0.9339 | pathogenic | -0.008 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| G/M | 0.9365 | likely_pathogenic | 0.9433 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/N | 0.8825 | likely_pathogenic | 0.9063 | pathogenic | -1.361 | Destabilizing | 0.996 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/P | 0.9898 | likely_pathogenic | 0.9924 | pathogenic | -0.22 | Destabilizing | 0.999 | D | 0.826 | deleterious | None | None | None | None | N |
| G/Q | 0.9276 | likely_pathogenic | 0.9382 | pathogenic | -1.36 | Destabilizing | 0.999 | D | 0.824 | deleterious | None | None | None | None | N |
| G/R | 0.9358 | likely_pathogenic | 0.9475 | pathogenic | -1.351 | Destabilizing | 0.999 | D | 0.827 | deleterious | N | 0.510322318 | None | None | N |
| G/S | 0.2435 | likely_benign | 0.2776 | benign | -1.556 | Destabilizing | 0.997 | D | 0.693 | prob.neutral | N | 0.472053079 | None | None | N |
| G/T | 0.6587 | likely_pathogenic | 0.7057 | pathogenic | -1.417 | Destabilizing | 0.998 | D | 0.803 | deleterious | None | None | None | None | N |
| G/V | 0.8512 | likely_pathogenic | 0.8784 | pathogenic | -0.22 | Destabilizing | 0.999 | D | 0.829 | deleterious | N | 0.497488437 | None | None | N |
| G/W | 0.9671 | likely_pathogenic | 0.9728 | pathogenic | -1.554 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| G/Y | 0.9578 | likely_pathogenic | 0.9637 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.805 | 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.