Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5807 | 17644;17645;17646 | chr2:178731347;178731346;178731345 | chr2:179596074;179596073;179596072 |
| N2AB | 5490 | 16693;16694;16695 | chr2:178731347;178731346;178731345 | chr2:179596074;179596073;179596072 |
| N2A | 4563 | 13912;13913;13914 | chr2:178731347;178731346;178731345 | chr2:179596074;179596073;179596072 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs1167663430  |
0.173 | 0.896 | N | 0.418 | 0.31 | 0.333154297509 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/H | None | None | 0.984 | N | 0.449 | 0.288 | 0.378674557249 | gnomAD-4.0.0 | 1.59126E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-06 | 0 | 0 |
| D/V | None | None | 0.984 | N | 0.474 | 0.477 | 0.53099781502 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/Y | rs548385039 |
0.13 | 0.995 | N | 0.541 | 0.328 | 0.643388216043 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/Y | rs548385039 |
0.13 | 0.995 | N | 0.541 | 0.328 | 0.643388216043 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| D/Y | rs548385039 |
0.13 | 0.995 | N | 0.541 | 0.328 | 0.643388216043 | gnomAD-4.0.0 | 1.02486E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.91442E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3343 | likely_benign | 0.3185 | benign | 0.016 | Stabilizing | 0.896 | D | 0.447 | neutral | N | 0.458348355 | None | None | I |
| D/C | 0.9108 | likely_pathogenic | 0.8945 | pathogenic | 0.057 | Stabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | I |
| D/E | 0.2379 | likely_benign | 0.2549 | benign | -0.28 | Destabilizing | 0.011 | N | 0.207 | neutral | N | 0.40104949 | None | None | I |
| D/F | 0.8274 | likely_pathogenic | 0.8105 | pathogenic | -0.168 | Destabilizing | 0.996 | D | 0.538 | neutral | None | None | None | None | I |
| D/G | 0.474 | ambiguous | 0.434 | ambiguous | -0.09 | Destabilizing | 0.896 | D | 0.418 | neutral | N | 0.491634209 | None | None | I |
| D/H | 0.6038 | likely_pathogenic | 0.5773 | pathogenic | 0.301 | Stabilizing | 0.984 | D | 0.449 | neutral | N | 0.510740045 | None | None | I |
| D/I | 0.5656 | likely_pathogenic | 0.5647 | pathogenic | 0.226 | Stabilizing | 0.988 | D | 0.535 | neutral | None | None | None | None | I |
| D/K | 0.6651 | likely_pathogenic | 0.6386 | pathogenic | 0.477 | Stabilizing | 0.851 | D | 0.419 | neutral | None | None | None | None | I |
| D/L | 0.6442 | likely_pathogenic | 0.6125 | pathogenic | 0.226 | Stabilizing | 0.976 | D | 0.475 | neutral | None | None | None | None | I |
| D/M | 0.8125 | likely_pathogenic | 0.8103 | pathogenic | 0.153 | Stabilizing | 0.999 | D | 0.547 | neutral | None | None | None | None | I |
| D/N | 0.2319 | likely_benign | 0.2233 | benign | 0.357 | Stabilizing | 0.896 | D | 0.419 | neutral | N | 0.483822802 | None | None | I |
| D/P | 0.8547 | likely_pathogenic | 0.8221 | pathogenic | 0.175 | Stabilizing | 0.988 | D | 0.409 | neutral | None | None | None | None | I |
| D/Q | 0.6214 | likely_pathogenic | 0.62 | pathogenic | 0.338 | Stabilizing | 0.507 | D | 0.291 | neutral | None | None | None | None | I |
| D/R | 0.6952 | likely_pathogenic | 0.6723 | pathogenic | 0.619 | Stabilizing | 0.976 | D | 0.441 | neutral | None | None | None | None | I |
| D/S | 0.2796 | likely_benign | 0.2648 | benign | 0.248 | Stabilizing | 0.919 | D | 0.374 | neutral | None | None | None | None | I |
| D/T | 0.4813 | ambiguous | 0.475 | ambiguous | 0.329 | Stabilizing | 0.919 | D | 0.411 | neutral | None | None | None | None | I |
| D/V | 0.3685 | ambiguous | 0.3618 | ambiguous | 0.175 | Stabilizing | 0.984 | D | 0.474 | neutral | N | 0.481110571 | None | None | I |
| D/W | 0.9664 | likely_pathogenic | 0.9615 | pathogenic | -0.152 | Destabilizing | 0.999 | D | 0.64 | neutral | None | None | None | None | I |
| D/Y | 0.4958 | ambiguous | 0.4547 | ambiguous | 0.052 | Stabilizing | 0.995 | D | 0.541 | neutral | N | 0.485225484 | None | None | I |
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.