Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27107 | 81544;81545;81546 | chr2:178564813;178564812;178564811 | chr2:179429540;179429539;179429538 |
| N2AB | 25466 | 76621;76622;76623 | chr2:178564813;178564812;178564811 | chr2:179429540;179429539;179429538 |
| N2A | 24539 | 73840;73841;73842 | chr2:178564813;178564812;178564811 | chr2:179429540;179429539;179429538 |
| N2B | 18042 | 54349;54350;54351 | chr2:178564813;178564812;178564811 | chr2:179429540;179429539;179429538 |
| Novex-1 | 18167 | 54724;54725;54726 | chr2:178564813;178564812;178564811 | chr2:179429540;179429539;179429538 |
| Novex-2 | 18234 | 54925;54926;54927 | chr2:178564813;178564812;178564811 | chr2:179429540;179429539;179429538 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | rs374968141  |
None | 1.0 | D | 0.798 | 0.87 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs374968141 |
None | 1.0 | D | 0.798 | 0.87 | None | gnomAD-4.0.0 | 1.31442E-05 | None | None | None | None | N | None | 4.82462E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/N | None | None | 1.0 | D | 0.877 | 0.87 | 0.92121323827 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.21507E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -3.81 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| Y/C | 0.9239 | likely_pathogenic | 0.9183 | pathogenic | -2.192 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.659084634 | None | None | N |
| Y/D | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -3.914 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.659286438 | None | None | N |
| Y/E | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -3.717 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/F | 0.2224 | likely_benign | 0.2041 | benign | -1.628 | Destabilizing | 0.999 | D | 0.651 | neutral | D | 0.581825602 | None | None | N |
| Y/G | 0.9942 | likely_pathogenic | 0.9942 | pathogenic | -4.171 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| Y/H | 0.98 | likely_pathogenic | 0.9779 | pathogenic | -2.792 | Highly Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.658681025 | None | None | N |
| Y/I | 0.9832 | likely_pathogenic | 0.9831 | pathogenic | -2.565 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| Y/K | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -2.731 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| Y/L | 0.9708 | likely_pathogenic | 0.9703 | pathogenic | -2.565 | Highly Destabilizing | 0.999 | D | 0.752 | deleterious | None | None | None | None | N |
| Y/M | 0.9904 | likely_pathogenic | 0.99 | pathogenic | -2.257 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| Y/N | 0.9858 | likely_pathogenic | 0.9848 | pathogenic | -3.429 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.659084634 | None | None | N |
| Y/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -3.001 | Highly Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | N |
| Y/Q | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -3.208 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| Y/R | 0.9946 | likely_pathogenic | 0.9944 | pathogenic | -2.394 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| Y/S | 0.9927 | likely_pathogenic | 0.9924 | pathogenic | -3.737 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.659084634 | None | None | N |
| Y/T | 0.9977 | likely_pathogenic | 0.9979 | pathogenic | -3.439 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/V | 0.9751 | likely_pathogenic | 0.9758 | pathogenic | -3.001 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| Y/W | 0.8205 | likely_pathogenic | 0.8055 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.786 | 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.