Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29125 | 87598;87599;87600 | chr2:178557981;178557980;178557979 | chr2:179422708;179422707;179422706 |
| N2AB | 27484 | 82675;82676;82677 | chr2:178557981;178557980;178557979 | chr2:179422708;179422707;179422706 |
| N2A | 26557 | 79894;79895;79896 | chr2:178557981;178557980;178557979 | chr2:179422708;179422707;179422706 |
| N2B | 20060 | 60403;60404;60405 | chr2:178557981;178557980;178557979 | chr2:179422708;179422707;179422706 |
| Novex-1 | 20185 | 60778;60779;60780 | chr2:178557981;178557980;178557979 | chr2:179422708;179422707;179422706 |
| Novex-2 | 20252 | 60979;60980;60981 | chr2:178557981;178557980;178557979 | chr2:179422708;179422707;179422706 |
| 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 | rs1433625453  |
None | 0.999 | N | 0.572 | 0.416 | 0.368554958709 | 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/A | rs1433625453 |
None | 0.999 | N | 0.572 | 0.416 | 0.368554958709 | gnomAD-4.0.0 | 6.56996E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 0 | 0 |
| T/I | rs762768301 |
None | 1.0 | N | 0.729 | 0.459 | 0.478828542108 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| T/I | rs762768301 |
None | 1.0 | N | 0.729 | 0.459 | 0.478828542108 | gnomAD-4.0.0 | 3.71881E-06 | None | None | None | None | N | None | 5.33832E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09791E-05 | 1.60118E-05 |
| T/K | rs762768301 |
-0.332 | 1.0 | N | 0.747 | 0.476 | 0.424670345773 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11383E-04 | None | 0 | None | 0 | 0 | 0 |
| T/K | rs762768301 |
-0.332 | 1.0 | N | 0.747 | 0.476 | 0.424670345773 | gnomAD-4.0.0 | 7.52791E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.7712E-04 | None | 0 | 0 | 0 | 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 | 0.0811 | likely_benign | 0.0793 | benign | -0.321 | Destabilizing | 0.999 | D | 0.572 | neutral | N | 0.482841368 | None | None | N |
| T/C | 0.3341 | likely_benign | 0.3008 | benign | -0.13 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| T/D | 0.376 | ambiguous | 0.3466 | ambiguous | -0.04 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| T/E | 0.244 | likely_benign | 0.2294 | benign | -0.137 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| T/F | 0.2013 | likely_benign | 0.18 | benign | -0.938 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| T/G | 0.2512 | likely_benign | 0.2399 | benign | -0.408 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| T/H | 0.2453 | likely_benign | 0.2204 | benign | -0.757 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| T/I | 0.116 | likely_benign | 0.1074 | benign | -0.213 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.48746054 | None | None | N |
| T/K | 0.1838 | likely_benign | 0.1728 | benign | -0.294 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.442453396 | None | None | N |
| T/L | 0.0988 | likely_benign | 0.0924 | benign | -0.213 | Destabilizing | 0.999 | D | 0.666 | neutral | None | None | None | None | N |
| T/M | 0.0797 | likely_benign | 0.0758 | benign | 0.07 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| T/N | 0.1055 | likely_benign | 0.1019 | benign | -0.008 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| T/P | 0.3079 | likely_benign | 0.3019 | benign | -0.223 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.487049136 | None | None | N |
| T/Q | 0.1827 | likely_benign | 0.1742 | benign | -0.294 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| T/R | 0.1681 | likely_benign | 0.1601 | benign | -0.006 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.493962438 | None | None | N |
| T/S | 0.1001 | likely_benign | 0.094 | benign | -0.173 | Destabilizing | 0.999 | D | 0.598 | neutral | N | 0.456481486 | None | None | N |
| T/V | 0.0974 | likely_benign | 0.088 | benign | -0.223 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| T/W | 0.5988 | likely_pathogenic | 0.5771 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| T/Y | 0.2726 | likely_benign | 0.2529 | benign | -0.669 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | 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.