Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15873 | 47842;47843;47844 | chr2:178617468;178617467;178617466 | chr2:179482195;179482194;179482193 |
| N2AB | 14232 | 42919;42920;42921 | chr2:178617468;178617467;178617466 | chr2:179482195;179482194;179482193 |
| N2A | 13305 | 40138;40139;40140 | chr2:178617468;178617467;178617466 | chr2:179482195;179482194;179482193 |
| N2B | 6808 | 20647;20648;20649 | chr2:178617468;178617467;178617466 | chr2:179482195;179482194;179482193 |
| Novex-1 | 6933 | 21022;21023;21024 | chr2:178617468;178617467;178617466 | chr2:179482195;179482194;179482193 |
| Novex-2 | 7000 | 21223;21224;21225 | chr2:178617468;178617467;178617466 | chr2:179482195;179482194;179482193 |
| 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/L | None | None | 0.425 | N | 0.462 | 0.275 | 0.337621943819 | gnomAD-4.0.0 | 6.90716E-07 | None | None | None | None | N | None | 0 | 2.41943E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs1344484833  |
0.514 | 0.27 | N | 0.305 | 0.189 | 0.15556083564 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| Q/R | rs1344484833 |
0.514 | 0.27 | N | 0.305 | 0.189 | 0.15556083564 | 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 |
| Q/R | rs1344484833 |
0.514 | 0.27 | N | 0.305 | 0.189 | 0.15556083564 | gnomAD-4.0.0 | 1.25027E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.70138E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.1118 | likely_benign | 0.1153 | benign | -0.234 | Destabilizing | 0.495 | N | 0.404 | neutral | None | None | None | None | N |
| Q/C | 0.5127 | ambiguous | 0.5499 | ambiguous | 0.375 | Stabilizing | 0.995 | D | 0.526 | neutral | None | None | None | None | N |
| Q/D | 0.3217 | likely_benign | 0.369 | ambiguous | -0.636 | Destabilizing | 0.495 | N | 0.256 | neutral | None | None | None | None | N |
| Q/E | 0.0735 | likely_benign | 0.0734 | benign | -0.666 | Destabilizing | 0.139 | N | 0.238 | neutral | N | 0.398689864 | None | None | N |
| Q/F | 0.5559 | ambiguous | 0.6152 | pathogenic | -0.654 | Destabilizing | 0.981 | D | 0.561 | neutral | None | None | None | None | N |
| Q/G | 0.1668 | likely_benign | 0.1766 | benign | -0.416 | Destabilizing | 0.495 | N | 0.462 | neutral | None | None | None | None | N |
| Q/H | 0.2166 | likely_benign | 0.2572 | benign | -0.717 | Destabilizing | 0.975 | D | 0.361 | neutral | N | 0.447971546 | None | None | N |
| Q/I | 0.3012 | likely_benign | 0.3244 | benign | 0.159 | Stabilizing | 0.944 | D | 0.569 | neutral | None | None | None | None | N |
| Q/K | 0.0681 | likely_benign | 0.0687 | benign | 0.166 | Stabilizing | 0.001 | N | 0.083 | neutral | N | 0.3126769 | None | None | N |
| Q/L | 0.132 | likely_benign | 0.1431 | benign | 0.159 | Stabilizing | 0.425 | N | 0.462 | neutral | N | 0.473342141 | None | None | N |
| Q/M | 0.2876 | likely_benign | 0.3064 | benign | 0.84 | Stabilizing | 0.981 | D | 0.356 | neutral | None | None | None | None | N |
| Q/N | 0.2285 | likely_benign | 0.2494 | benign | -0.176 | Destabilizing | 0.704 | D | 0.231 | neutral | None | None | None | None | N |
| Q/P | 0.0963 | likely_benign | 0.1072 | benign | 0.055 | Stabilizing | 0.784 | D | 0.407 | neutral | N | 0.386117357 | None | None | N |
| Q/R | 0.0831 | likely_benign | 0.0864 | benign | 0.297 | Stabilizing | 0.27 | N | 0.305 | neutral | N | 0.380169207 | None | None | N |
| Q/S | 0.1465 | likely_benign | 0.1493 | benign | -0.137 | Destabilizing | 0.495 | N | 0.313 | neutral | None | None | None | None | N |
| Q/T | 0.155 | likely_benign | 0.1619 | benign | -0.022 | Destabilizing | 0.495 | N | 0.391 | neutral | None | None | None | None | N |
| Q/V | 0.1936 | likely_benign | 0.2029 | benign | 0.055 | Stabilizing | 0.828 | D | 0.481 | neutral | None | None | None | None | N |
| Q/W | 0.5011 | ambiguous | 0.5492 | ambiguous | -0.649 | Destabilizing | 0.995 | D | 0.493 | neutral | None | None | None | None | N |
| Q/Y | 0.3631 | ambiguous | 0.4029 | ambiguous | -0.323 | Destabilizing | 0.981 | D | 0.492 | 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.