Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27630 | 83113;83114;83115 | chr2:178563244;178563243;178563242 | chr2:179427971;179427970;179427969 |
| N2AB | 25989 | 78190;78191;78192 | chr2:178563244;178563243;178563242 | chr2:179427971;179427970;179427969 |
| N2A | 25062 | 75409;75410;75411 | chr2:178563244;178563243;178563242 | chr2:179427971;179427970;179427969 |
| N2B | 18565 | 55918;55919;55920 | chr2:178563244;178563243;178563242 | chr2:179427971;179427970;179427969 |
| Novex-1 | 18690 | 56293;56294;56295 | chr2:178563244;178563243;178563242 | chr2:179427971;179427970;179427969 |
| Novex-2 | 18757 | 56494;56495;56496 | chr2:178563244;178563243;178563242 | chr2:179427971;179427970;179427969 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/E | None | None | 0.101 | N | 0.339 | 0.1 | 0.148003135375 | 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 |
| Q/K | None | None | 0.001 | N | 0.231 | 0.174 | 0.124217242631 | 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 |
| Q/P | rs375607506  |
-0.145 | 0.523 | N | 0.521 | 0.329 | None | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.92E-05 | 0 |
| Q/P | rs375607506 |
-0.145 | 0.523 | N | 0.521 | 0.329 | None | 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 |
| Q/P | rs375607506 |
-0.145 | 0.523 | N | 0.521 | 0.329 | None | gnomAD-4.0.0 | 8.67611E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18672E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1566 | likely_benign | 0.1723 | benign | -0.48 | Destabilizing | 0.129 | N | 0.409 | neutral | None | None | None | None | N |
| Q/C | 0.3968 | ambiguous | 0.4374 | ambiguous | -0.021 | Destabilizing | 0.983 | D | 0.535 | neutral | None | None | None | None | N |
| Q/D | 0.347 | ambiguous | 0.3555 | ambiguous | 0.169 | Stabilizing | 0.129 | N | 0.322 | neutral | None | None | None | None | N |
| Q/E | 0.0869 | likely_benign | 0.0858 | benign | 0.21 | Stabilizing | 0.101 | N | 0.339 | neutral | N | 0.408927107 | None | None | N |
| Q/F | 0.477 | ambiguous | 0.5269 | ambiguous | -0.442 | Destabilizing | 0.836 | D | 0.533 | neutral | None | None | None | None | N |
| Q/G | 0.2556 | likely_benign | 0.2625 | benign | -0.744 | Destabilizing | 0.228 | N | 0.454 | neutral | None | None | None | None | N |
| Q/H | 0.1381 | likely_benign | 0.1496 | benign | -0.425 | Destabilizing | 0.001 | N | 0.187 | neutral | N | 0.430150528 | None | None | N |
| Q/I | 0.225 | likely_benign | 0.2405 | benign | 0.155 | Stabilizing | 0.836 | D | 0.573 | neutral | None | None | None | None | N |
| Q/K | 0.0984 | likely_benign | 0.1026 | benign | 0.046 | Stabilizing | 0.001 | N | 0.231 | neutral | N | 0.417162588 | None | None | N |
| Q/L | 0.1058 | likely_benign | 0.1162 | benign | 0.155 | Stabilizing | 0.351 | N | 0.493 | neutral | N | 0.485099734 | None | None | N |
| Q/M | 0.2278 | likely_benign | 0.259 | benign | 0.305 | Stabilizing | 0.94 | D | 0.457 | neutral | None | None | None | None | N |
| Q/N | 0.1934 | likely_benign | 0.2139 | benign | -0.501 | Destabilizing | 0.004 | N | 0.195 | neutral | None | None | None | None | N |
| Q/P | 0.4003 | ambiguous | 0.3937 | ambiguous | -0.027 | Destabilizing | 0.523 | D | 0.521 | neutral | N | 0.497220882 | None | None | N |
| Q/R | 0.1066 | likely_benign | 0.1082 | benign | 0.18 | Stabilizing | 0.101 | N | 0.352 | neutral | N | 0.394304371 | None | None | N |
| Q/S | 0.1661 | likely_benign | 0.1776 | benign | -0.57 | Destabilizing | 0.129 | N | 0.349 | neutral | None | None | None | None | N |
| Q/T | 0.1139 | likely_benign | 0.1283 | benign | -0.339 | Destabilizing | 0.418 | N | 0.417 | neutral | None | None | None | None | N |
| Q/V | 0.143 | likely_benign | 0.1546 | benign | -0.027 | Destabilizing | 0.418 | N | 0.511 | neutral | None | None | None | None | N |
| Q/W | 0.4368 | ambiguous | 0.4571 | ambiguous | -0.33 | Destabilizing | 0.983 | D | 0.545 | neutral | None | None | None | None | N |
| Q/Y | 0.2858 | likely_benign | 0.3 | benign | -0.094 | Destabilizing | 0.418 | N | 0.559 | 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.