Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22931 | 69016;69017;69018 | chr2:178577635;178577634;178577633 | chr2:179442362;179442361;179442360 |
| N2AB | 21290 | 64093;64094;64095 | chr2:178577635;178577634;178577633 | chr2:179442362;179442361;179442360 |
| N2A | 20363 | 61312;61313;61314 | chr2:178577635;178577634;178577633 | chr2:179442362;179442361;179442360 |
| N2B | 13866 | 41821;41822;41823 | chr2:178577635;178577634;178577633 | chr2:179442362;179442361;179442360 |
| Novex-1 | 13991 | 42196;42197;42198 | chr2:178577635;178577634;178577633 | chr2:179442362;179442361;179442360 |
| Novex-2 | 14058 | 42397;42398;42399 | chr2:178577635;178577634;178577633 | chr2:179442362;179442361;179442360 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs201567815  |
-0.997 | 0.501 | N | 0.678 | 0.196 | None | gnomAD-2.1.1 | 6.90573E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.14164E-04 | None | 0 | None | 4.91777E-03 | 3.77798E-04 | 1.98638E-03 |
| S/N | rs201567815 |
-0.997 | 0.501 | N | 0.678 | 0.196 | None | gnomAD-3.1.2 | 5E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.885E-04 | None | 5.56919E-03 | 0 | 2.20673E-04 | 0 | 0 |
| S/N | rs201567815 |
-0.997 | 0.501 | N | 0.678 | 0.196 | None | gnomAD-4.0.0 | 3.66063E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.6783E-03 | None | 5.59193E-03 | 0 | 9.3295E-05 | 0 | 7.69576E-04 |
| S/R | rs794729484 |
-0.675 | 0.877 | N | 0.757 | 0.279 | 0.18995819373 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs794729484 |
-0.675 | 0.877 | N | 0.757 | 0.279 | 0.18995819373 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20604E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs794729484 |
-0.675 | 0.877 | N | 0.757 | 0.279 | 0.18995819373 | gnomAD-4.0.0 | 5.58301E-06 | None | None | None | None | N | None | 1.0686E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60298E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0716 | likely_benign | 0.0708 | benign | -0.896 | Destabilizing | 0.107 | N | 0.449 | neutral | None | None | None | None | N |
| S/C | 0.1149 | likely_benign | 0.1221 | benign | -0.658 | Destabilizing | 0.003 | N | 0.426 | neutral | N | 0.469794941 | None | None | N |
| S/D | 0.4287 | ambiguous | 0.45 | ambiguous | -0.627 | Destabilizing | 0.571 | D | 0.682 | prob.neutral | None | None | None | None | N |
| S/E | 0.4596 | ambiguous | 0.4846 | ambiguous | -0.588 | Destabilizing | 0.571 | D | 0.687 | prob.delet. | None | None | None | None | N |
| S/F | 0.2849 | likely_benign | 0.306 | benign | -0.829 | Destabilizing | 0.905 | D | 0.67 | prob.neutral | None | None | None | None | N |
| S/G | 0.0963 | likely_benign | 0.1011 | benign | -1.189 | Destabilizing | 0.501 | D | 0.618 | neutral | N | 0.510522901 | None | None | N |
| S/H | 0.3473 | ambiguous | 0.3662 | ambiguous | -1.519 | Destabilizing | 0.991 | D | 0.644 | neutral | None | None | None | None | N |
| S/I | 0.1437 | likely_benign | 0.1429 | benign | -0.206 | Destabilizing | 0.501 | D | 0.675 | prob.neutral | N | 0.490654695 | None | None | N |
| S/K | 0.5009 | ambiguous | 0.5084 | ambiguous | -0.824 | Destabilizing | 0.571 | D | 0.679 | prob.neutral | None | None | None | None | N |
| S/L | 0.1142 | likely_benign | 0.1249 | benign | -0.206 | Destabilizing | 0.4 | N | 0.618 | neutral | None | None | None | None | N |
| S/M | 0.1946 | likely_benign | 0.1959 | benign | 0.027 | Stabilizing | 0.966 | D | 0.651 | prob.neutral | None | None | None | None | N |
| S/N | 0.1265 | likely_benign | 0.1325 | benign | -0.878 | Destabilizing | 0.501 | D | 0.678 | prob.neutral | N | 0.472415061 | None | None | N |
| S/P | 0.0715 | likely_benign | 0.0743 | benign | -0.402 | Destabilizing | 0.905 | D | 0.76 | deleterious | None | None | None | None | N |
| S/Q | 0.4081 | ambiguous | 0.4227 | ambiguous | -0.994 | Destabilizing | 0.905 | D | 0.7 | prob.delet. | None | None | None | None | N |
| S/R | 0.4859 | ambiguous | 0.5166 | ambiguous | -0.729 | Destabilizing | 0.877 | D | 0.757 | deleterious | N | 0.498406127 | None | None | N |
| S/T | 0.0819 | likely_benign | 0.0843 | benign | -0.864 | Destabilizing | 0.002 | N | 0.174 | neutral | N | 0.464700245 | None | None | N |
| S/V | 0.1506 | likely_benign | 0.1496 | benign | -0.402 | Destabilizing | 0.4 | N | 0.613 | neutral | None | None | None | None | N |
| S/W | 0.4614 | ambiguous | 0.499 | ambiguous | -0.803 | Destabilizing | 0.991 | D | 0.717 | prob.delet. | None | None | None | None | N |
| S/Y | 0.2576 | likely_benign | 0.2866 | benign | -0.55 | Destabilizing | 0.966 | D | 0.677 | prob.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.