Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30248 | 90967;90968;90969 | chr2:178552158;178552157;178552156 | chr2:179416885;179416884;179416883 |
| N2AB | 28607 | 86044;86045;86046 | chr2:178552158;178552157;178552156 | chr2:179416885;179416884;179416883 |
| N2A | 27680 | 83263;83264;83265 | chr2:178552158;178552157;178552156 | chr2:179416885;179416884;179416883 |
| N2B | 21183 | 63772;63773;63774 | chr2:178552158;178552157;178552156 | chr2:179416885;179416884;179416883 |
| Novex-1 | 21308 | 64147;64148;64149 | chr2:178552158;178552157;178552156 | chr2:179416885;179416884;179416883 |
| Novex-2 | 21375 | 64348;64349;64350 | chr2:178552158;178552157;178552156 | chr2:179416885;179416884;179416883 |
| 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/I | rs727505024  |
-0.318 | None | N | 0.181 | 0.073 | 0.394079506076 | gnomAD-2.1.1 | 1.00607E-04 | None | None | None | None | N | None | 0 | 6.95935E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65837E-04 |
| V/I | rs727505024 |
-0.318 | None | N | 0.181 | 0.073 | 0.394079506076 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.3113E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs727505024 |
-0.318 | None | N | 0.181 | 0.073 | 0.394079506076 | gnomAD-4.0.0 | 3.84326E-05 | None | None | None | None | N | None | 0 | 5.08613E-04 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0799 | likely_benign | 0.0751 | benign | -1.369 | Destabilizing | None | N | 0.096 | neutral | N | 0.367963132 | None | None | N |
| V/C | 0.5014 | ambiguous | 0.5222 | ambiguous | -1.019 | Destabilizing | 0.824 | D | 0.557 | neutral | None | None | None | None | N |
| V/D | 0.1728 | likely_benign | 0.1769 | benign | -1.419 | Destabilizing | 0.081 | N | 0.543 | neutral | None | None | None | None | N |
| V/E | 0.1348 | likely_benign | 0.141 | benign | -1.395 | Destabilizing | 0.001 | N | 0.289 | neutral | N | 0.385588887 | None | None | N |
| V/F | 0.152 | likely_benign | 0.1521 | benign | -1.008 | Destabilizing | 0.38 | N | 0.581 | neutral | None | None | None | None | N |
| V/G | 0.1474 | likely_benign | 0.1518 | benign | -1.679 | Destabilizing | 0.062 | N | 0.506 | neutral | N | 0.437633861 | None | None | N |
| V/H | 0.3595 | ambiguous | 0.3795 | ambiguous | -1.109 | Destabilizing | 0.935 | D | 0.566 | neutral | None | None | None | None | N |
| V/I | 0.0688 | likely_benign | 0.0661 | benign | -0.606 | Destabilizing | None | N | 0.181 | neutral | N | 0.476517536 | None | None | N |
| V/K | 0.2082 | likely_benign | 0.2053 | benign | -1.285 | Destabilizing | 0.149 | N | 0.519 | neutral | None | None | None | None | N |
| V/L | 0.114 | likely_benign | 0.1034 | benign | -0.606 | Destabilizing | 0.009 | N | 0.391 | neutral | N | 0.457662416 | None | None | N |
| V/M | 0.0961 | likely_benign | 0.0926 | benign | -0.633 | Destabilizing | 0.38 | N | 0.501 | neutral | None | None | None | None | N |
| V/N | 0.1459 | likely_benign | 0.1389 | benign | -1.124 | Destabilizing | 0.555 | D | 0.595 | neutral | None | None | None | None | N |
| V/P | 0.1509 | likely_benign | 0.1458 | benign | -0.827 | Destabilizing | 0.555 | D | 0.603 | neutral | None | None | None | None | N |
| V/Q | 0.1888 | likely_benign | 0.1969 | benign | -1.244 | Destabilizing | 0.38 | N | 0.603 | neutral | None | None | None | None | N |
| V/R | 0.2339 | likely_benign | 0.2368 | benign | -0.785 | Destabilizing | 0.38 | N | 0.599 | neutral | None | None | None | None | N |
| V/S | 0.1098 | likely_benign | 0.1056 | benign | -1.571 | Destabilizing | 0.081 | N | 0.468 | neutral | None | None | None | None | N |
| V/T | 0.1035 | likely_benign | 0.0999 | benign | -1.428 | Destabilizing | 0.081 | N | 0.377 | neutral | None | None | None | None | N |
| V/W | 0.7129 | likely_pathogenic | 0.7383 | pathogenic | -1.18 | Destabilizing | 0.935 | D | 0.637 | neutral | None | None | None | None | N |
| V/Y | 0.3737 | ambiguous | 0.3706 | ambiguous | -0.901 | Destabilizing | 0.555 | D | 0.582 | 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.