Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19658 | 59197;59198;59199 | chr2:178593236;178593235;178593234 | chr2:179457963;179457962;179457961 |
| N2AB | 18017 | 54274;54275;54276 | chr2:178593236;178593235;178593234 | chr2:179457963;179457962;179457961 |
| N2A | 17090 | 51493;51494;51495 | chr2:178593236;178593235;178593234 | chr2:179457963;179457962;179457961 |
| N2B | 10593 | 32002;32003;32004 | chr2:178593236;178593235;178593234 | chr2:179457963;179457962;179457961 |
| Novex-1 | 10718 | 32377;32378;32379 | chr2:178593236;178593235;178593234 | chr2:179457963;179457962;179457961 |
| Novex-2 | 10785 | 32578;32579;32580 | chr2:178593236;178593235;178593234 | chr2:179457963;179457962;179457961 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | rs767889522  |
-1.143 | 0.999 | D | 0.615 | 0.547 | 0.39208347742 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| N/S | rs767889522 |
-1.143 | 0.999 | D | 0.615 | 0.547 | 0.39208347742 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| N/S | rs767889522 |
-1.143 | 0.999 | D | 0.615 | 0.547 | 0.39208347742 | gnomAD-4.0.0 | 9.91725E-06 | None | None | None | None | N | None | 1.33501E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.27159E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9973 | likely_pathogenic | 0.997 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| N/C | 0.98 | likely_pathogenic | 0.9778 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/D | 0.9855 | likely_pathogenic | 0.9845 | pathogenic | -2.35 | Highly Destabilizing | 0.999 | D | 0.631 | neutral | D | 0.538819644 | None | None | N |
| N/E | 0.9974 | likely_pathogenic | 0.9971 | pathogenic | -2.137 | Highly Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| N/F | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| N/G | 0.9901 | likely_pathogenic | 0.99 | pathogenic | -1.274 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| N/H | 0.988 | likely_pathogenic | 0.9875 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.555735811 | None | None | N |
| N/I | 0.9956 | likely_pathogenic | 0.995 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.5559893 | None | None | N |
| N/K | 0.9977 | likely_pathogenic | 0.9976 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.566078158 | None | None | N |
| N/L | 0.986 | likely_pathogenic | 0.9836 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| N/M | 0.9906 | likely_pathogenic | 0.9892 | pathogenic | -0.087 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| N/P | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| N/Q | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| N/R | 0.9967 | likely_pathogenic | 0.9964 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| N/S | 0.9375 | likely_pathogenic | 0.9315 | pathogenic | -1.327 | Destabilizing | 0.999 | D | 0.615 | neutral | D | 0.524803539 | None | None | N |
| N/T | 0.9638 | likely_pathogenic | 0.9601 | pathogenic | -0.972 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | N | 0.518318624 | None | None | N |
| N/V | 0.994 | likely_pathogenic | 0.9931 | pathogenic | -0.377 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| N/W | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| N/Y | 0.9913 | likely_pathogenic | 0.9907 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.567092116 | 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.