Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 86 | 481;482;483 | chr2:178802177;178802176;178802175 | chr2:179666904;179666903;179666902 |
| N2AB | 86 | 481;482;483 | chr2:178802177;178802176;178802175 | chr2:179666904;179666903;179666902 |
| N2A | 86 | 481;482;483 | chr2:178802177;178802176;178802175 | chr2:179666904;179666903;179666902 |
| N2B | 86 | 481;482;483 | chr2:178802177;178802176;178802175 | chr2:179666904;179666903;179666902 |
| Novex-1 | 86 | 481;482;483 | chr2:178802177;178802176;178802175 | chr2:179666904;179666903;179666902 |
| Novex-2 | 86 | 481;482;483 | chr2:178802177;178802176;178802175 | chr2:179666904;179666903;179666902 |
| Novex-3 | 86 | 481;482;483 | chr2:178802177;178802176;178802175 | chr2:179666904;179666903;179666902 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | None | None | 1.0 | N | 0.609 | 0.5 | 0.634526825879 | gnomAD-4.0.0 | 1.59046E-06 | None | None | None | -0.769(TCAP) | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| S/Y | rs749985986  |
-0.968 | 1.0 | N | 0.616 | 0.463 | None | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.312(TCAP) | I | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/Y | rs749985986 |
-0.968 | 1.0 | N | 0.616 | 0.463 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.312(TCAP) | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/Y | rs749985986 |
-0.968 | 1.0 | N | 0.616 | 0.463 | None | gnomAD-4.0.0 | 6.57082E-06 | None | None | None | -0.312(TCAP) | I | None | 2.41313E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0906 | likely_benign | 0.0784 | benign | -0.195 | Destabilizing | 0.001 | N | 0.248 | neutral | N | 0.350862565 | None | -1.03(TCAP) | I |
| S/C | 0.3085 | likely_benign | 0.272 | benign | -0.413 | Destabilizing | 1.0 | D | 0.506 | neutral | N | 0.509509118 | None | -0.126(TCAP) | I |
| S/D | 0.6245 | likely_pathogenic | 0.5323 | ambiguous | -0.113 | Destabilizing | 0.987 | D | 0.366 | neutral | None | None | None | -1.491(TCAP) | I |
| S/E | 0.6631 | likely_pathogenic | 0.5964 | pathogenic | -0.224 | Destabilizing | 0.982 | D | 0.325 | neutral | None | None | None | -1.59(TCAP) | I |
| S/F | 0.2923 | likely_benign | 0.2331 | benign | -0.968 | Destabilizing | 1.0 | D | 0.609 | neutral | N | 0.398285444 | None | -0.769(TCAP) | I |
| S/G | 0.1593 | likely_benign | 0.1334 | benign | -0.211 | Destabilizing | 0.937 | D | 0.375 | neutral | None | None | None | -0.976(TCAP) | I |
| S/H | 0.4959 | ambiguous | 0.4342 | ambiguous | -0.509 | Destabilizing | 1.0 | D | 0.507 | neutral | None | None | None | -0.425(TCAP) | I |
| S/I | 0.2659 | likely_benign | 0.2108 | benign | -0.28 | Destabilizing | 0.998 | D | 0.557 | neutral | None | None | None | -1.258(TCAP) | I |
| S/K | 0.7945 | likely_pathogenic | 0.7103 | pathogenic | -0.4 | Destabilizing | 0.993 | D | 0.331 | neutral | None | None | None | -1.982(TCAP) | I |
| S/L | 0.1755 | likely_benign | 0.141 | benign | -0.28 | Destabilizing | 0.993 | D | 0.518 | neutral | None | None | None | -1.258(TCAP) | I |
| S/M | 0.3379 | likely_benign | 0.2741 | benign | -0.21 | Destabilizing | 1.0 | D | 0.505 | neutral | None | None | None | -0.118(TCAP) | I |
| S/N | 0.2551 | likely_benign | 0.1952 | benign | -0.167 | Destabilizing | 0.902 | D | 0.397 | neutral | None | None | None | -0.596(TCAP) | I |
| S/P | 0.6391 | likely_pathogenic | 0.5686 | pathogenic | -0.231 | Destabilizing | 0.995 | D | 0.451 | neutral | D | 0.55248208 | None | -1.172(TCAP) | I |
| S/Q | 0.6028 | likely_pathogenic | 0.534 | ambiguous | -0.395 | Destabilizing | 0.999 | D | 0.412 | neutral | None | None | None | -1.023(TCAP) | I |
| S/R | 0.6762 | likely_pathogenic | 0.5843 | pathogenic | -0.153 | Destabilizing | 0.999 | D | 0.459 | neutral | None | None | None | -1.607(TCAP) | I |
| S/T | 0.1389 | likely_benign | 0.1151 | benign | -0.291 | Destabilizing | 0.586 | D | 0.373 | neutral | N | 0.499511807 | None | -1.228(TCAP) | I |
| S/V | 0.2841 | likely_benign | 0.2216 | benign | -0.231 | Destabilizing | 0.964 | D | 0.511 | neutral | None | None | None | -1.172(TCAP) | I |
| S/W | 0.4889 | ambiguous | 0.4481 | ambiguous | -1.058 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | -0.628(TCAP) | I |
| S/Y | 0.3017 | likely_benign | 0.2535 | benign | -0.746 | Destabilizing | 1.0 | D | 0.616 | neutral | N | 0.442730402 | None | -0.312(TCAP) | 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.