Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26184 | 78775;78776;78777 | chr2:178567582;178567581;178567580 | chr2:179432309;179432308;179432307 |
| N2AB | 24543 | 73852;73853;73854 | chr2:178567582;178567581;178567580 | chr2:179432309;179432308;179432307 |
| N2A | 23616 | 71071;71072;71073 | chr2:178567582;178567581;178567580 | chr2:179432309;179432308;179432307 |
| N2B | 17119 | 51580;51581;51582 | chr2:178567582;178567581;178567580 | chr2:179432309;179432308;179432307 |
| Novex-1 | 17244 | 51955;51956;51957 | chr2:178567582;178567581;178567580 | chr2:179432309;179432308;179432307 |
| Novex-2 | 17311 | 52156;52157;52158 | chr2:178567582;178567581;178567580 | chr2:179432309;179432308;179432307 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1193775017  |
-2.085 | 0.914 | N | 0.655 | 0.259 | 0.238705975628 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| A/T | rs1193775017 |
-2.085 | 0.914 | N | 0.655 | 0.259 | 0.238705975628 | 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 |
| A/T | rs1193775017 |
-2.085 | 0.914 | N | 0.655 | 0.259 | 0.238705975628 | gnomAD-4.0.0 | 2.57658E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.81626E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.619 | likely_pathogenic | 0.5909 | pathogenic | -1.871 | Destabilizing | 0.999 | D | 0.802 | deleterious | None | None | None | None | N |
| A/D | 0.9968 | likely_pathogenic | 0.9963 | pathogenic | -3.043 | Highly Destabilizing | 0.996 | D | 0.815 | deleterious | N | 0.503457512 | None | None | N |
| A/E | 0.9904 | likely_pathogenic | 0.9892 | pathogenic | -2.842 | Highly Destabilizing | 0.99 | D | 0.741 | deleterious | None | None | None | None | N |
| A/F | 0.9754 | likely_pathogenic | 0.9683 | pathogenic | -0.741 | Destabilizing | 0.98 | D | 0.817 | deleterious | None | None | None | None | N |
| A/G | 0.6025 | likely_pathogenic | 0.5913 | pathogenic | -1.932 | Destabilizing | 0.955 | D | 0.548 | neutral | N | 0.503204023 | None | None | N |
| A/H | 0.9958 | likely_pathogenic | 0.9951 | pathogenic | -1.937 | Destabilizing | 0.999 | D | 0.811 | deleterious | None | None | None | None | N |
| A/I | 0.7008 | likely_pathogenic | 0.6441 | pathogenic | -0.413 | Destabilizing | 0.875 | D | 0.727 | deleterious | None | None | None | None | N |
| A/K | 0.9972 | likely_pathogenic | 0.9965 | pathogenic | -1.395 | Destabilizing | 0.99 | D | 0.769 | deleterious | None | None | None | None | N |
| A/L | 0.698 | likely_pathogenic | 0.6686 | pathogenic | -0.413 | Destabilizing | 0.875 | D | 0.597 | neutral | None | None | None | None | N |
| A/M | 0.7913 | likely_pathogenic | 0.7737 | pathogenic | -0.996 | Destabilizing | 0.997 | D | 0.857 | deleterious | None | None | None | None | N |
| A/N | 0.974 | likely_pathogenic | 0.9723 | pathogenic | -1.86 | Destabilizing | 0.997 | D | 0.82 | deleterious | None | None | None | None | N |
| A/P | 0.8309 | likely_pathogenic | 0.7619 | pathogenic | -0.749 | Destabilizing | 0.996 | D | 0.824 | deleterious | N | 0.467979337 | None | None | N |
| A/Q | 0.9832 | likely_pathogenic | 0.9801 | pathogenic | -1.66 | Destabilizing | 0.997 | D | 0.834 | deleterious | None | None | None | None | N |
| A/R | 0.9908 | likely_pathogenic | 0.989 | pathogenic | -1.442 | Destabilizing | 0.99 | D | 0.833 | deleterious | None | None | None | None | N |
| A/S | 0.3696 | ambiguous | 0.3676 | ambiguous | -2.167 | Highly Destabilizing | 0.955 | D | 0.615 | neutral | N | 0.502697044 | None | None | N |
| A/T | 0.3632 | ambiguous | 0.3777 | ambiguous | -1.861 | Destabilizing | 0.914 | D | 0.655 | prob.neutral | N | 0.464589203 | None | None | N |
| A/V | 0.3259 | likely_benign | 0.2871 | benign | -0.749 | Destabilizing | 0.071 | N | 0.37 | neutral | N | 0.461459578 | None | None | N |
| A/W | 0.9985 | likely_pathogenic | 0.998 | pathogenic | -1.388 | Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | N |
| A/Y | 0.9932 | likely_pathogenic | 0.9915 | pathogenic | -1.015 | Destabilizing | 0.99 | D | 0.803 | 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.