Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8567 | 25924;25925;25926 | chr2:178715715;178715714;178715713 | chr2:179580442;179580441;179580440 |
| N2AB | 8250 | 24973;24974;24975 | chr2:178715715;178715714;178715713 | chr2:179580442;179580441;179580440 |
| N2A | 7323 | 22192;22193;22194 | chr2:178715715;178715714;178715713 | chr2:179580442;179580441;179580440 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs777832511  |
-0.846 | 0.002 | N | 0.323 | 0.088 | 0.0806252709748 | gnomAD-2.1.1 | 4.34E-06 | None | None | None | None | N | None | 7.09E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs777832511 |
-0.846 | 0.002 | N | 0.323 | 0.088 | 0.0806252709748 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs777832511 |
-0.846 | 0.002 | N | 0.323 | 0.088 | 0.0806252709748 | gnomAD-4.0.0 | 6.2339E-06 | None | None | None | None | N | None | 1.20334E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.61005E-05 |
| T/K | rs867794054 |
None | 0.864 | N | 0.751 | 0.192 | 0.230578612272 | gnomAD-4.0.0 | 1.61538E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41663E-04 | 0 | 0 | 0 |
| T/P | rs777832511 |
-0.192 | 0.906 | N | 0.809 | 0.237 | 0.239305524855 | gnomAD-2.1.1 | 4.34E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.49E-05 | None | 0 | 0 | 0 |
| T/P | rs777832511 |
-0.192 | 0.906 | N | 0.809 | 0.237 | 0.239305524855 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| T/P | rs777832511 |
-0.192 | 0.906 | N | 0.809 | 0.237 | 0.239305524855 | gnomAD-4.0.0 | 6.57263E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 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 | 0.0726 | likely_benign | 0.0728 | benign | -0.924 | Destabilizing | 0.002 | N | 0.323 | neutral | N | 0.386324314 | None | None | N |
| T/C | 0.3492 | ambiguous | 0.3478 | ambiguous | -0.706 | Destabilizing | 0.998 | D | 0.747 | deleterious | None | None | None | None | N |
| T/D | 0.5762 | likely_pathogenic | 0.5739 | pathogenic | -1.566 | Destabilizing | 0.006 | N | 0.513 | neutral | None | None | None | None | N |
| T/E | 0.5035 | ambiguous | 0.4966 | ambiguous | -1.345 | Destabilizing | 0.75 | D | 0.728 | prob.delet. | None | None | None | None | N |
| T/F | 0.281 | likely_benign | 0.2927 | benign | -0.721 | Destabilizing | 0.987 | D | 0.783 | deleterious | None | None | None | None | N |
| T/G | 0.2827 | likely_benign | 0.2898 | benign | -1.313 | Destabilizing | 0.938 | D | 0.707 | prob.neutral | None | None | None | None | N |
| T/H | 0.3566 | ambiguous | 0.3547 | ambiguous | -1.172 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | None | None | None | None | N |
| T/I | 0.1527 | likely_benign | 0.1516 | benign | 0.11 | Stabilizing | 0.76 | D | 0.729 | prob.delet. | N | 0.42084232 | None | None | N |
| T/K | 0.4683 | ambiguous | 0.4572 | ambiguous | -0.413 | Destabilizing | 0.864 | D | 0.751 | deleterious | N | 0.512331116 | None | None | N |
| T/L | 0.1078 | likely_benign | 0.1109 | benign | 0.11 | Stabilizing | 0.011 | N | 0.457 | neutral | None | None | None | None | N |
| T/M | 0.1045 | likely_benign | 0.1064 | benign | -0.048 | Destabilizing | 0.967 | D | 0.759 | deleterious | None | None | None | None | N |
| T/N | 0.2315 | likely_benign | 0.2306 | benign | -1.249 | Destabilizing | 0.474 | N | 0.73 | prob.delet. | None | None | None | None | N |
| T/P | 0.4553 | ambiguous | 0.4322 | ambiguous | -0.208 | Destabilizing | 0.906 | D | 0.809 | deleterious | N | 0.460856674 | None | None | N |
| T/Q | 0.3632 | ambiguous | 0.3609 | ambiguous | -0.982 | Destabilizing | 0.965 | D | 0.806 | deleterious | None | None | None | None | N |
| T/R | 0.3664 | ambiguous | 0.3598 | ambiguous | -0.566 | Destabilizing | 0.992 | D | 0.803 | deleterious | N | 0.47870744 | None | None | N |
| T/S | 0.1127 | likely_benign | 0.1159 | benign | -1.51 | Destabilizing | 0.083 | N | 0.645 | neutral | N | 0.487376743 | None | None | N |
| T/V | 0.1199 | likely_benign | 0.1185 | benign | -0.208 | Destabilizing | 0.553 | D | 0.651 | neutral | None | None | None | None | N |
| T/W | 0.6781 | likely_pathogenic | 0.6788 | pathogenic | -0.974 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| T/Y | 0.3691 | ambiguous | 0.3723 | ambiguous | -0.529 | Destabilizing | 0.998 | D | 0.771 | deleterious | 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.