Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19697 | 59314;59315;59316 | chr2:178593030;178593029;178593028 | chr2:179457757;179457756;179457755 |
| N2AB | 18056 | 54391;54392;54393 | chr2:178593030;178593029;178593028 | chr2:179457757;179457756;179457755 |
| N2A | 17129 | 51610;51611;51612 | chr2:178593030;178593029;178593028 | chr2:179457757;179457756;179457755 |
| N2B | 10632 | 32119;32120;32121 | chr2:178593030;178593029;178593028 | chr2:179457757;179457756;179457755 |
| Novex-1 | 10757 | 32494;32495;32496 | chr2:178593030;178593029;178593028 | chr2:179457757;179457756;179457755 |
| Novex-2 | 10824 | 32695;32696;32697 | chr2:178593030;178593029;178593028 | chr2:179457757;179457756;179457755 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1559608792  |
None | 0.543 | N | 0.321 | 0.339 | 0.555277862696 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1559608792 |
None | 0.543 | N | 0.321 | 0.339 | 0.555277862696 | gnomAD-4.0.0 | 1.59199E-06 | None | None | None | None | N | None | 0 | 2.28812E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs777789224 |
-0.512 | 0.987 | N | 0.529 | 0.23 | 0.560491779295 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| V/I | rs777789224 |
-0.512 | 0.987 | N | 0.529 | 0.23 | 0.560491779295 | gnomAD-4.0.0 | 1.59198E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85936E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3809 | ambiguous | 0.3077 | benign | -2.316 | Highly Destabilizing | 0.543 | D | 0.321 | neutral | N | 0.475384937 | None | None | N |
| V/C | 0.9122 | likely_pathogenic | 0.9003 | pathogenic | -2.47 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| V/D | 0.9973 | likely_pathogenic | 0.9962 | pathogenic | -2.926 | Highly Destabilizing | 0.998 | D | 0.861 | deleterious | D | 0.545425781 | None | None | N |
| V/E | 0.9924 | likely_pathogenic | 0.9891 | pathogenic | -2.687 | Highly Destabilizing | 0.999 | D | 0.841 | deleterious | None | None | None | None | N |
| V/F | 0.8983 | likely_pathogenic | 0.8791 | pathogenic | -1.46 | Destabilizing | 0.999 | D | 0.834 | deleterious | N | 0.508657386 | None | None | N |
| V/G | 0.8612 | likely_pathogenic | 0.8266 | pathogenic | -2.881 | Highly Destabilizing | 0.997 | D | 0.782 | deleterious | D | 0.526307568 | None | None | N |
| V/H | 0.9975 | likely_pathogenic | 0.9964 | pathogenic | -2.539 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| V/I | 0.1233 | likely_benign | 0.1174 | benign | -0.721 | Destabilizing | 0.987 | D | 0.529 | neutral | N | 0.515710642 | None | None | N |
| V/K | 0.9929 | likely_pathogenic | 0.9903 | pathogenic | -1.899 | Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| V/L | 0.6998 | likely_pathogenic | 0.6752 | pathogenic | -0.721 | Destabilizing | 0.973 | D | 0.595 | neutral | N | 0.513608913 | None | None | N |
| V/M | 0.6352 | likely_pathogenic | 0.5641 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| V/N | 0.991 | likely_pathogenic | 0.988 | pathogenic | -2.341 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| V/P | 0.9956 | likely_pathogenic | 0.9943 | pathogenic | -1.227 | Destabilizing | 0.999 | D | 0.858 | deleterious | None | None | None | None | N |
| V/Q | 0.9884 | likely_pathogenic | 0.9835 | pathogenic | -2.161 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| V/R | 0.984 | likely_pathogenic | 0.9783 | pathogenic | -1.76 | Destabilizing | 0.999 | D | 0.869 | deleterious | None | None | None | None | N |
| V/S | 0.8853 | likely_pathogenic | 0.8512 | pathogenic | -3.04 | Highly Destabilizing | 0.995 | D | 0.804 | deleterious | None | None | None | None | N |
| V/T | 0.612 | likely_pathogenic | 0.5638 | ambiguous | -2.637 | Highly Destabilizing | 0.992 | D | 0.647 | neutral | None | None | None | None | N |
| V/W | 0.9985 | likely_pathogenic | 0.9977 | pathogenic | -1.878 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| V/Y | 0.9918 | likely_pathogenic | 0.9894 | pathogenic | -1.553 | Destabilizing | 1.0 | D | 0.841 | 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.