Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10051 | 30376;30377;30378 | chr2:178704219;178704218;178704217 | chr2:179568946;179568945;179568944 |
| N2AB | 9734 | 29425;29426;29427 | chr2:178704219;178704218;178704217 | chr2:179568946;179568945;179568944 |
| N2A | 8807 | 26644;26645;26646 | chr2:178704219;178704218;178704217 | chr2:179568946;179568945;179568944 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/P | rs772291213  |
0.005 | 0.957 | None | 0.377 | 0.396 | 0.522129480193 | gnomAD-2.1.1 | 8.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.85E-06 | 0 |
| R/P | rs772291213 |
0.005 | 0.957 | None | 0.377 | 0.396 | 0.522129480193 | gnomAD-4.0.0 | 1.3683E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99405E-07 | 1.15942E-05 | 0 |
| R/Q | None | 0.105 | 0.175 | None | 0.312 | 0.15 | 0.137902524267 | gnomAD-2.1.1 | 1.6E-05 | None | None | None | None | N | None | 1.93723E-04 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/Q | None | 0.105 | 0.175 | None | 0.312 | 0.15 | 0.137902524267 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | None | 0.105 | 0.175 | None | 0.312 | 0.15 | 0.137902524267 | gnomAD-4.0.0 | 9.29475E-06 | None | None | None | None | N | None | 4.00406E-05 | 0 | None | 0 | 2.22767E-05 | None | 0 | 0 | 8.47555E-06 | 1.09794E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8382 | likely_pathogenic | 0.7132 | pathogenic | -0.666 | Destabilizing | 0.447 | N | 0.366 | neutral | None | None | None | None | N |
| R/C | 0.5868 | likely_pathogenic | 0.3967 | ambiguous | -0.565 | Destabilizing | 0.992 | D | 0.424 | neutral | None | None | None | None | N |
| R/D | 0.9661 | likely_pathogenic | 0.9221 | pathogenic | -0.148 | Destabilizing | 0.447 | N | 0.411 | neutral | None | None | None | None | N |
| R/E | 0.8055 | likely_pathogenic | 0.6629 | pathogenic | -0.035 | Destabilizing | 0.25 | N | 0.353 | neutral | None | None | None | None | N |
| R/F | 0.9047 | likely_pathogenic | 0.8323 | pathogenic | -0.565 | Destabilizing | 0.972 | D | 0.363 | neutral | None | None | None | None | N |
| R/G | 0.7387 | likely_pathogenic | 0.5677 | pathogenic | -0.973 | Destabilizing | 0.756 | D | 0.408 | neutral | None | None | None | None | N |
| R/H | 0.2921 | likely_benign | 0.1836 | benign | -1.336 | Destabilizing | 0.92 | D | 0.28 | neutral | None | None | None | None | N |
| R/I | 0.8378 | likely_pathogenic | 0.6984 | pathogenic | 0.152 | Stabilizing | 0.92 | D | 0.369 | neutral | None | None | None | None | N |
| R/K | 0.2414 | likely_benign | 0.1553 | benign | -0.79 | Destabilizing | 0.009 | N | 0.204 | neutral | None | None | None | None | N |
| R/L | 0.6605 | likely_pathogenic | 0.4847 | ambiguous | 0.152 | Stabilizing | 0.756 | D | 0.413 | neutral | None | None | None | None | N |
| R/M | 0.761 | likely_pathogenic | 0.5939 | pathogenic | -0.118 | Destabilizing | 0.92 | D | 0.313 | neutral | None | None | None | None | N |
| R/N | 0.9326 | likely_pathogenic | 0.8539 | pathogenic | -0.237 | Destabilizing | 0.021 | N | 0.324 | neutral | None | None | None | None | N |
| R/P | 0.9876 | likely_pathogenic | 0.974 | pathogenic | -0.099 | Destabilizing | 0.957 | D | 0.377 | neutral | None | None | None | None | N |
| R/Q | 0.2727 | likely_benign | 0.1688 | benign | -0.403 | Destabilizing | 0.175 | N | 0.312 | neutral | None | None | None | None | N |
| R/S | 0.8776 | likely_pathogenic | 0.7618 | pathogenic | -0.921 | Destabilizing | 0.447 | N | 0.361 | neutral | None | None | None | None | N |
| R/T | 0.7119 | likely_pathogenic | 0.499 | ambiguous | -0.634 | Destabilizing | 0.617 | D | 0.374 | neutral | None | None | None | None | N |
| R/V | 0.849 | likely_pathogenic | 0.7305 | pathogenic | -0.099 | Destabilizing | 0.85 | D | 0.377 | neutral | None | None | None | None | N |
| R/W | 0.5955 | likely_pathogenic | 0.4497 | ambiguous | -0.275 | Destabilizing | 0.992 | D | 0.513 | neutral | None | None | None | None | N |
| R/Y | 0.8626 | likely_pathogenic | 0.7526 | pathogenic | 0.035 | Stabilizing | 0.92 | D | 0.363 | 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.