Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32240 | 96943;96944;96945 | chr2:178543255;178543254;178543253 | chr2:179407982;179407981;179407980 |
| N2AB | 30599 | 92020;92021;92022 | chr2:178543255;178543254;178543253 | chr2:179407982;179407981;179407980 |
| N2A | 29672 | 89239;89240;89241 | chr2:178543255;178543254;178543253 | chr2:179407982;179407981;179407980 |
| N2B | 23175 | 69748;69749;69750 | chr2:178543255;178543254;178543253 | chr2:179407982;179407981;179407980 |
| Novex-1 | 23300 | 70123;70124;70125 | chr2:178543255;178543254;178543253 | chr2:179407982;179407981;179407980 |
| Novex-2 | 23367 | 70324;70325;70326 | chr2:178543255;178543254;178543253 | chr2:179407982;179407981;179407980 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs374598326  |
-2.477 | 1.0 | N | 0.68 | 0.389 | None | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 9.94E-05 | 0 | None | 0 | None | 0 | 2.66E-05 | 0 |
| E/K | rs374598326 |
-2.477 | 1.0 | N | 0.68 | 0.389 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs374598326 |
-2.477 | 1.0 | N | 0.68 | 0.389 | None | gnomAD-4.0.0 | 1.61129E-05 | None | None | None | None | N | None | 4.00759E-05 | 1.66761E-05 | None | 3.37838E-05 | 0 | None | 0 | 0 | 1.69522E-05 | 0 | 1.60108E-05 |
| E/Q | rs374598326 |
-2.128 | 1.0 | N | 0.76 | 0.314 | 0.300449992093 | gnomAD-2.1.1 | 3.2E-05 | None | None | None | None | N | None | 1.14943E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| E/Q | rs374598326 |
-2.128 | 1.0 | N | 0.76 | 0.314 | 0.300449992093 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/Q | rs374598326 |
-2.128 | 1.0 | N | 0.76 | 0.314 | 0.300449992093 | gnomAD-4.0.0 | 6.57782E-06 | None | None | None | None | N | None | 2.41604E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8873 | likely_pathogenic | 0.8828 | pathogenic | -2.039 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.528937233 | None | None | N |
| E/C | 0.9895 | likely_pathogenic | 0.9889 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| E/D | 0.6915 | likely_pathogenic | 0.6428 | pathogenic | -1.901 | Destabilizing | 0.998 | D | 0.68 | prob.neutral | N | 0.487057184 | None | None | N |
| E/F | 0.9909 | likely_pathogenic | 0.9899 | pathogenic | -1.708 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| E/G | 0.9351 | likely_pathogenic | 0.9343 | pathogenic | -2.403 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | D | 0.53071166 | None | None | N |
| E/H | 0.9534 | likely_pathogenic | 0.9533 | pathogenic | -1.537 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| E/I | 0.9811 | likely_pathogenic | 0.9793 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| E/K | 0.9409 | likely_pathogenic | 0.9422 | pathogenic | -2.061 | Highly Destabilizing | 1.0 | D | 0.68 | prob.neutral | N | 0.512692629 | None | None | N |
| E/L | 0.9625 | likely_pathogenic | 0.961 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| E/M | 0.9726 | likely_pathogenic | 0.9705 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| E/N | 0.9772 | likely_pathogenic | 0.9706 | pathogenic | -2.188 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/P | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| E/Q | 0.7008 | likely_pathogenic | 0.697 | pathogenic | -1.91 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.476635477 | None | None | N |
| E/R | 0.9445 | likely_pathogenic | 0.9486 | pathogenic | -1.785 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| E/S | 0.9101 | likely_pathogenic | 0.8994 | pathogenic | -2.852 | Highly Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| E/T | 0.9542 | likely_pathogenic | 0.9531 | pathogenic | -2.508 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| E/V | 0.9354 | likely_pathogenic | 0.9312 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.523114337 | None | None | N |
| E/W | 0.9921 | likely_pathogenic | 0.9922 | pathogenic | -1.769 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| E/Y | 0.9772 | likely_pathogenic | 0.9761 | pathogenic | -1.563 | Destabilizing | 1.0 | D | 0.814 | 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.