Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33263 | 100012;100013;100014 | chr2:178537420;178537419;178537418 | chr2:179402147;179402146;179402145 |
| N2AB | 31622 | 95089;95090;95091 | chr2:178537420;178537419;178537418 | chr2:179402147;179402146;179402145 |
| N2A | 30695 | 92308;92309;92310 | chr2:178537420;178537419;178537418 | chr2:179402147;179402146;179402145 |
| N2B | 24198 | 72817;72818;72819 | chr2:178537420;178537419;178537418 | chr2:179402147;179402146;179402145 |
| Novex-1 | 24323 | 73192;73193;73194 | chr2:178537420;178537419;178537418 | chr2:179402147;179402146;179402145 |
| Novex-2 | 24390 | 73393;73394;73395 | chr2:178537420;178537419;178537418 | chr2:179402147;179402146;179402145 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/P | None | None | 0.952 | N | 0.493 | 0.261 | 0.387366425376 | gnomAD-4.0.0 | 4.78444E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.59476E-06 | 0 | 0 |
| T/S | rs369648529  |
-0.57 | 0.034 | N | 0.321 | 0.152 | 0.195762928549 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 6.53E-05 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| T/S | rs369648529 |
-0.57 | 0.034 | N | 0.321 | 0.152 | 0.195762928549 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/S | rs369648529 |
-0.57 | 0.034 | N | 0.321 | 0.152 | 0.195762928549 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/S | rs369648529 |
-0.57 | 0.034 | N | 0.321 | 0.152 | 0.195762928549 | gnomAD-4.0.0 | 6.41634E-06 | None | None | None | None | N | None | 5.06808E-05 | 1.69727E-05 | None | 0 | 0 | None | 0 | 0 | 2.39773E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0926 | likely_benign | 0.0958 | benign | -0.42 | Destabilizing | 0.003 | N | 0.252 | neutral | N | 0.407743389 | None | None | N |
| T/C | 0.4713 | ambiguous | 0.5181 | ambiguous | -0.004 | Destabilizing | 0.997 | D | 0.501 | neutral | None | None | None | None | N |
| T/D | 0.3154 | likely_benign | 0.3157 | benign | -0.205 | Destabilizing | 0.928 | D | 0.495 | neutral | None | None | None | None | N |
| T/E | 0.2346 | likely_benign | 0.2348 | benign | -0.254 | Destabilizing | 0.924 | D | 0.515 | neutral | None | None | None | None | N |
| T/F | 0.2255 | likely_benign | 0.2404 | benign | -0.665 | Destabilizing | 0.997 | D | 0.507 | neutral | None | None | None | None | N |
| T/G | 0.2948 | likely_benign | 0.3055 | benign | -0.606 | Destabilizing | 0.939 | D | 0.503 | neutral | None | None | None | None | N |
| T/H | 0.2345 | likely_benign | 0.257 | benign | -0.861 | Destabilizing | 0.999 | D | 0.553 | neutral | None | None | None | None | N |
| T/I | 0.1266 | likely_benign | 0.1262 | benign | -0.025 | Destabilizing | 0.978 | D | 0.49 | neutral | N | 0.437892938 | None | None | N |
| T/K | 0.1971 | likely_benign | 0.2163 | benign | -0.574 | Destabilizing | 0.187 | N | 0.36 | neutral | None | None | None | None | N |
| T/L | 0.1075 | likely_benign | 0.1085 | benign | -0.025 | Destabilizing | 0.945 | D | 0.484 | neutral | None | None | None | None | N |
| T/M | 0.0905 | likely_benign | 0.0969 | benign | 0.171 | Stabilizing | 0.999 | D | 0.494 | neutral | None | None | None | None | N |
| T/N | 0.0943 | likely_benign | 0.0967 | benign | -0.195 | Destabilizing | 0.907 | D | 0.487 | neutral | N | 0.456652057 | None | None | N |
| T/P | 0.2823 | likely_benign | 0.2898 | benign | -0.128 | Destabilizing | 0.952 | D | 0.493 | neutral | N | 0.45734549 | None | None | N |
| T/Q | 0.1969 | likely_benign | 0.216 | benign | -0.394 | Destabilizing | 0.966 | D | 0.475 | neutral | None | None | None | None | N |
| T/R | 0.1694 | likely_benign | 0.1998 | benign | -0.27 | Destabilizing | 0.988 | D | 0.501 | neutral | None | None | None | None | N |
| T/S | 0.1135 | likely_benign | 0.117 | benign | -0.358 | Destabilizing | 0.034 | N | 0.321 | neutral | N | 0.37047308 | None | None | N |
| T/V | 0.1331 | likely_benign | 0.1288 | benign | -0.128 | Destabilizing | 0.86 | D | 0.485 | neutral | None | None | None | None | N |
| T/W | 0.5603 | ambiguous | 0.6045 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.634 | neutral | None | None | None | None | N |
| T/Y | 0.2537 | likely_benign | 0.2769 | benign | -0.475 | Destabilizing | 0.999 | D | 0.513 | 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.