Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24537 | 73834;73835;73836 | chr2:178572523;178572522;178572521 | chr2:179437250;179437249;179437248 |
| N2AB | 22896 | 68911;68912;68913 | chr2:178572523;178572522;178572521 | chr2:179437250;179437249;179437248 |
| N2A | 21969 | 66130;66131;66132 | chr2:178572523;178572522;178572521 | chr2:179437250;179437249;179437248 |
| N2B | 15472 | 46639;46640;46641 | chr2:178572523;178572522;178572521 | chr2:179437250;179437249;179437248 |
| Novex-1 | 15597 | 47014;47015;47016 | chr2:178572523;178572522;178572521 | chr2:179437250;179437249;179437248 |
| Novex-2 | 15664 | 47215;47216;47217 | chr2:178572523;178572522;178572521 | chr2:179437250;179437249;179437248 |
| 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/A | rs1192398039  |
-1.245 | 0.56 | N | 0.441 | 0.213 | 0.239305524855 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.49351E-04 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs1192398039 |
-1.245 | 0.56 | N | 0.441 | 0.213 | 0.239305524855 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93648E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs1192398039 |
-1.245 | 0.56 | N | 0.441 | 0.213 | 0.239305524855 | gnomAD-4.0.0 | 6.57367E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.93648E-04 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1452164843 |
-0.078 | 0.997 | N | 0.536 | 0.406 | 0.481321013822 | 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 |
| T/I | rs1452164843 |
-0.078 | 0.997 | N | 0.536 | 0.406 | 0.481321013822 | 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 |
| T/I | rs1452164843 |
-0.078 | 0.997 | N | 0.536 | 0.406 | 0.481321013822 | gnomAD-4.0.0 | 6.57471E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47076E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1091 | likely_benign | 0.109 | benign | -1.053 | Destabilizing | 0.56 | D | 0.441 | neutral | N | 0.478258546 | None | None | N |
| T/C | 0.2677 | likely_benign | 0.2769 | benign | -0.963 | Destabilizing | 1.0 | D | 0.564 | neutral | None | None | None | None | N |
| T/D | 0.7243 | likely_pathogenic | 0.6948 | pathogenic | -1.159 | Destabilizing | 0.962 | D | 0.496 | neutral | None | None | None | None | N |
| T/E | 0.6398 | likely_pathogenic | 0.6168 | pathogenic | -1.062 | Destabilizing | 0.988 | D | 0.486 | neutral | None | None | None | None | N |
| T/F | 0.1609 | likely_benign | 0.1616 | benign | -0.812 | Destabilizing | 0.694 | D | 0.437 | neutral | None | None | None | None | N |
| T/G | 0.3036 | likely_benign | 0.3164 | benign | -1.391 | Destabilizing | 0.995 | D | 0.511 | neutral | None | None | None | None | N |
| T/H | 0.2856 | likely_benign | 0.2855 | benign | -1.561 | Destabilizing | 1.0 | D | 0.598 | neutral | None | None | None | None | N |
| T/I | 0.1122 | likely_benign | 0.1134 | benign | -0.209 | Destabilizing | 0.997 | D | 0.536 | neutral | N | 0.506149797 | None | None | N |
| T/K | 0.5018 | ambiguous | 0.462 | ambiguous | -0.861 | Destabilizing | 0.989 | D | 0.491 | neutral | N | 0.476866194 | None | None | N |
| T/L | 0.0739 | likely_benign | 0.0755 | benign | -0.209 | Destabilizing | 0.983 | D | 0.482 | neutral | None | None | None | None | N |
| T/M | 0.0693 | likely_benign | 0.0705 | benign | -0.114 | Destabilizing | 1.0 | D | 0.574 | neutral | None | None | None | None | N |
| T/N | 0.167 | likely_benign | 0.1652 | benign | -1.154 | Destabilizing | 0.962 | D | 0.517 | neutral | None | None | None | None | N |
| T/P | 0.7655 | likely_pathogenic | 0.6918 | pathogenic | -0.458 | Destabilizing | 0.993 | D | 0.559 | neutral | D | 0.524128295 | None | None | N |
| T/Q | 0.3423 | ambiguous | 0.3286 | benign | -1.204 | Destabilizing | 0.997 | D | 0.565 | neutral | None | None | None | None | N |
| T/R | 0.4601 | ambiguous | 0.3914 | ambiguous | -0.767 | Destabilizing | 0.999 | D | 0.559 | neutral | N | 0.476764062 | None | None | N |
| T/S | 0.1096 | likely_benign | 0.1141 | benign | -1.393 | Destabilizing | 0.092 | N | 0.233 | neutral | N | 0.475229457 | None | None | N |
| T/V | 0.0977 | likely_benign | 0.0984 | benign | -0.458 | Destabilizing | 0.988 | D | 0.511 | neutral | None | None | None | None | N |
| T/W | 0.5104 | ambiguous | 0.4974 | ambiguous | -0.805 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| T/Y | 0.2273 | likely_benign | 0.2225 | benign | -0.521 | Destabilizing | 0.998 | D | 0.567 | 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.