Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16189 | 48790;48791;48792 | chr2:178615380;178615379;178615378 | chr2:179480107;179480106;179480105 |
| N2AB | 14548 | 43867;43868;43869 | chr2:178615380;178615379;178615378 | chr2:179480107;179480106;179480105 |
| N2A | 13621 | 41086;41087;41088 | chr2:178615380;178615379;178615378 | chr2:179480107;179480106;179480105 |
| N2B | 7124 | 21595;21596;21597 | chr2:178615380;178615379;178615378 | chr2:179480107;179480106;179480105 |
| Novex-1 | 7249 | 21970;21971;21972 | chr2:178615380;178615379;178615378 | chr2:179480107;179480106;179480105 |
| Novex-2 | 7316 | 22171;22172;22173 | chr2:178615380;178615379;178615378 | chr2:179480107;179480106;179480105 |
| 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/E | rs2057143975  |
None | 1.0 | D | 0.912 | 0.594 | 0.672963448933 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.95008E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs2057143975 |
None | 1.0 | D | 0.912 | 0.594 | 0.672963448933 | gnomAD-4.0.0 | 1.86047E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23514E-05 | None | 0 | 0 | 1.69626E-06 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.907 | 0.616 | 0.89042064206 | gnomAD-4.0.0 | 1.36932E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79994E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4994 | ambiguous | 0.43 | ambiguous | -0.371 | Destabilizing | 1.0 | D | 0.599 | neutral | D | 0.630285733 | None | None | N |
| G/C | 0.8258 | likely_pathogenic | 0.7242 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/D | 0.9525 | likely_pathogenic | 0.891 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| G/E | 0.9488 | likely_pathogenic | 0.8996 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.912 | deleterious | D | 0.566215858 | None | None | N |
| G/F | 0.9855 | likely_pathogenic | 0.9753 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| G/H | 0.9712 | likely_pathogenic | 0.9406 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/I | 0.9834 | likely_pathogenic | 0.9712 | pathogenic | 0.412 | Stabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/K | 0.9865 | likely_pathogenic | 0.9722 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| G/L | 0.9803 | likely_pathogenic | 0.9678 | pathogenic | 0.412 | Stabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| G/M | 0.9746 | likely_pathogenic | 0.9594 | pathogenic | 0.232 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/N | 0.9245 | likely_pathogenic | 0.8603 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9992 | pathogenic | 0.197 | Stabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/Q | 0.9474 | likely_pathogenic | 0.9128 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/R | 0.9723 | likely_pathogenic | 0.9467 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.592467124 | None | None | N |
| G/S | 0.5034 | ambiguous | 0.3906 | ambiguous | -1.105 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| G/T | 0.8846 | likely_pathogenic | 0.8148 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | N |
| G/V | 0.9597 | likely_pathogenic | 0.9303 | pathogenic | 0.197 | Stabilizing | 1.0 | D | 0.907 | deleterious | D | 0.722460295 | None | None | N |
| G/W | 0.9744 | likely_pathogenic | 0.9469 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/Y | 0.9461 | likely_pathogenic | 0.9096 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.87 | 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.