Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17611 | 53056;53057;53058 | chr2:178607956;178607955;178607954 | chr2:179472683;179472682;179472681 |
| N2AB | 15970 | 48133;48134;48135 | chr2:178607956;178607955;178607954 | chr2:179472683;179472682;179472681 |
| N2A | 15043 | 45352;45353;45354 | chr2:178607956;178607955;178607954 | chr2:179472683;179472682;179472681 |
| N2B | 8546 | 25861;25862;25863 | chr2:178607956;178607955;178607954 | chr2:179472683;179472682;179472681 |
| Novex-1 | 8671 | 26236;26237;26238 | chr2:178607956;178607955;178607954 | chr2:179472683;179472682;179472681 |
| Novex-2 | 8738 | 26437;26438;26439 | chr2:178607956;178607955;178607954 | chr2:179472683;179472682;179472681 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs781744658  |
-1.299 | None | N | 0.167 | 0.134 | 0.284150004643 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| V/A | rs781744658 |
-1.299 | None | N | 0.167 | 0.134 | 0.284150004643 | gnomAD-4.0.0 | 4.77852E-06 | None | None | None | None | N | None | 5.67086E-05 | 2.28791E-05 | None | 0 | 0 | None | 0 | 0 | 2.86138E-06 | 0 | 0 |
| V/F | rs748265704 |
None | 0.655 | N | 0.462 | 0.261 | 0.570441715299 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/F | rs748265704 |
None | 0.655 | N | 0.462 | 0.261 | 0.570441715299 | gnomAD-4.0.0 | 6.58224E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47219E-05 | 0 | 0 |
| V/I | rs748265704 |
-0.577 | 0.001 | N | 0.185 | 0.077 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 4.14E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| V/I | rs748265704 |
-0.577 | 0.001 | N | 0.185 | 0.077 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.42E-05 | 0 | 0 |
| V/I | rs748265704 |
-0.577 | 0.001 | N | 0.185 | 0.077 | None | gnomAD-4.0.0 | 1.24004E-05 | None | None | None | None | N | None | 2.67301E-05 | 1.66861E-05 | None | 0 | 0 | None | 0 | 0 | 1.35672E-05 | 0 | 1.60231E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1109 | likely_benign | 0.0923 | benign | -1.429 | Destabilizing | None | N | 0.167 | neutral | N | 0.407543027 | None | None | N |
| V/C | 0.7091 | likely_pathogenic | 0.6342 | pathogenic | -0.911 | Destabilizing | 0.836 | D | 0.483 | neutral | None | None | None | None | N |
| V/D | 0.3916 | ambiguous | 0.3214 | benign | -0.963 | Destabilizing | 0.794 | D | 0.576 | neutral | N | 0.446946777 | None | None | N |
| V/E | 0.2619 | likely_benign | 0.2213 | benign | -0.948 | Destabilizing | 0.418 | N | 0.551 | neutral | None | None | None | None | N |
| V/F | 0.217 | likely_benign | 0.1705 | benign | -1.047 | Destabilizing | 0.655 | D | 0.462 | neutral | N | 0.469789076 | None | None | N |
| V/G | 0.2343 | likely_benign | 0.1858 | benign | -1.768 | Destabilizing | 0.213 | N | 0.541 | neutral | N | 0.472498583 | None | None | N |
| V/H | 0.5936 | likely_pathogenic | 0.5042 | ambiguous | -1.257 | Destabilizing | 0.983 | D | 0.578 | neutral | None | None | None | None | N |
| V/I | 0.0919 | likely_benign | 0.0908 | benign | -0.598 | Destabilizing | 0.001 | N | 0.185 | neutral | N | 0.44090624 | None | None | N |
| V/K | 0.3768 | ambiguous | 0.3055 | benign | -1.114 | Destabilizing | 0.418 | N | 0.522 | neutral | None | None | None | None | N |
| V/L | 0.1847 | likely_benign | 0.152 | benign | -0.598 | Destabilizing | 0.017 | N | 0.22 | neutral | N | 0.456643696 | None | None | N |
| V/M | 0.1581 | likely_benign | 0.1189 | benign | -0.449 | Destabilizing | 0.027 | N | 0.181 | neutral | None | None | None | None | N |
| V/N | 0.3304 | likely_benign | 0.2781 | benign | -0.9 | Destabilizing | 0.836 | D | 0.585 | neutral | None | None | None | None | N |
| V/P | 0.4537 | ambiguous | 0.4395 | ambiguous | -0.839 | Destabilizing | 0.836 | D | 0.565 | neutral | None | None | None | None | N |
| V/Q | 0.3084 | likely_benign | 0.2533 | benign | -1.028 | Destabilizing | 0.836 | D | 0.567 | neutral | None | None | None | None | N |
| V/R | 0.3189 | likely_benign | 0.2547 | benign | -0.642 | Destabilizing | 0.716 | D | 0.581 | neutral | None | None | None | None | N |
| V/S | 0.1838 | likely_benign | 0.1485 | benign | -1.49 | Destabilizing | 0.129 | N | 0.519 | neutral | None | None | None | None | N |
| V/T | 0.1594 | likely_benign | 0.1404 | benign | -1.356 | Destabilizing | 0.228 | N | 0.281 | neutral | None | None | None | None | N |
| V/W | 0.792 | likely_pathogenic | 0.6973 | pathogenic | -1.239 | Destabilizing | 0.983 | D | 0.6 | neutral | None | None | None | None | N |
| V/Y | 0.5769 | likely_pathogenic | 0.4944 | ambiguous | -0.94 | Destabilizing | 0.836 | D | 0.487 | 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.