Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18007 | 54244;54245;54246 | chr2:178605158;178605157;178605156 | chr2:179469885;179469884;179469883 |
| N2AB | 16366 | 49321;49322;49323 | chr2:178605158;178605157;178605156 | chr2:179469885;179469884;179469883 |
| N2A | 15439 | 46540;46541;46542 | chr2:178605158;178605157;178605156 | chr2:179469885;179469884;179469883 |
| N2B | 8942 | 27049;27050;27051 | chr2:178605158;178605157;178605156 | chr2:179469885;179469884;179469883 |
| Novex-1 | 9067 | 27424;27425;27426 | chr2:178605158;178605157;178605156 | chr2:179469885;179469884;179469883 |
| Novex-2 | 9134 | 27625;27626;27627 | chr2:178605158;178605157;178605156 | chr2:179469885;179469884;179469883 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs1439129129  |
-0.755 | 0.968 | N | 0.535 | 0.478 | 0.461323234107 | gnomAD-2.1.1 | 7.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.58E-05 | 0 |
| I/M | rs1439129129 |
-0.755 | 0.968 | N | 0.535 | 0.478 | 0.461323234107 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/M | rs1439129129 |
-0.755 | 0.968 | N | 0.535 | 0.478 | 0.461323234107 | gnomAD-4.0.0 | 3.10103E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.24031E-06 | 0 | 0 |
| I/T | None | None | 0.946 | N | 0.561 | 0.605 | 0.770513024545 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/V | rs1260982977 |
None | 0.437 | N | 0.439 | 0.169 | 0.409124616982 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/V | rs1260982977 |
None | 0.437 | N | 0.439 | 0.169 | 0.409124616982 | gnomAD-4.0.0 | 3.10084E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.24018E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.5131 | ambiguous | 0.5724 | pathogenic | -1.845 | Destabilizing | 0.959 | D | 0.539 | neutral | None | None | None | None | N |
| I/C | 0.8683 | likely_pathogenic | 0.8922 | pathogenic | -1.321 | Destabilizing | 0.999 | D | 0.624 | neutral | None | None | None | None | N |
| I/D | 0.9627 | likely_pathogenic | 0.9666 | pathogenic | -1.15 | Destabilizing | 0.996 | D | 0.725 | prob.delet. | None | None | None | None | N |
| I/E | 0.9007 | likely_pathogenic | 0.9033 | pathogenic | -1.044 | Destabilizing | 0.996 | D | 0.711 | prob.delet. | None | None | None | None | N |
| I/F | 0.1879 | likely_benign | 0.2055 | benign | -1.1 | Destabilizing | 0.059 | N | 0.377 | neutral | N | 0.495054988 | None | None | N |
| I/G | 0.9243 | likely_pathogenic | 0.9282 | pathogenic | -2.265 | Highly Destabilizing | 0.988 | D | 0.693 | prob.neutral | None | None | None | None | N |
| I/H | 0.8726 | likely_pathogenic | 0.887 | pathogenic | -1.424 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | N |
| I/K | 0.8661 | likely_pathogenic | 0.8656 | pathogenic | -1.329 | Destabilizing | 0.996 | D | 0.706 | prob.neutral | None | None | None | None | N |
| I/L | 0.1083 | likely_benign | 0.1138 | benign | -0.714 | Destabilizing | 0.011 | N | 0.197 | neutral | N | 0.476680612 | None | None | N |
| I/M | 0.1247 | likely_benign | 0.1324 | benign | -0.712 | Destabilizing | 0.968 | D | 0.535 | neutral | N | 0.495624419 | None | None | N |
| I/N | 0.8283 | likely_pathogenic | 0.8357 | pathogenic | -1.371 | Destabilizing | 0.995 | D | 0.731 | prob.delet. | N | 0.520756566 | None | None | N |
| I/P | 0.9264 | likely_pathogenic | 0.9211 | pathogenic | -1.063 | Destabilizing | 0.996 | D | 0.731 | prob.delet. | None | None | None | None | N |
| I/Q | 0.8459 | likely_pathogenic | 0.8503 | pathogenic | -1.356 | Destabilizing | 0.996 | D | 0.721 | prob.delet. | None | None | None | None | N |
| I/R | 0.7979 | likely_pathogenic | 0.8006 | pathogenic | -0.929 | Destabilizing | 0.996 | D | 0.731 | prob.delet. | None | None | None | None | N |
| I/S | 0.7217 | likely_pathogenic | 0.7467 | pathogenic | -2.085 | Highly Destabilizing | 0.984 | D | 0.621 | neutral | D | 0.531605893 | None | None | N |
| I/T | 0.3808 | ambiguous | 0.4397 | ambiguous | -1.83 | Destabilizing | 0.946 | D | 0.561 | neutral | N | 0.513840352 | None | None | N |
| I/V | 0.112 | likely_benign | 0.1237 | benign | -1.063 | Destabilizing | 0.437 | N | 0.439 | neutral | N | 0.50389143 | None | None | N |
| I/W | 0.8254 | likely_pathogenic | 0.8371 | pathogenic | -1.23 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| I/Y | 0.7242 | likely_pathogenic | 0.7495 | pathogenic | -0.986 | Destabilizing | 0.952 | D | 0.615 | neutral | 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.