Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22464 | 67615;67616;67617 | chr2:178579807;178579806;178579805 | chr2:179444534;179444533;179444532 |
| N2AB | 20823 | 62692;62693;62694 | chr2:178579807;178579806;178579805 | chr2:179444534;179444533;179444532 |
| N2A | 19896 | 59911;59912;59913 | chr2:178579807;178579806;178579805 | chr2:179444534;179444533;179444532 |
| N2B | 13399 | 40420;40421;40422 | chr2:178579807;178579806;178579805 | chr2:179444534;179444533;179444532 |
| Novex-1 | 13524 | 40795;40796;40797 | chr2:178579807;178579806;178579805 | chr2:179444534;179444533;179444532 |
| Novex-2 | 13591 | 40996;40997;40998 | chr2:178579807;178579806;178579805 | chr2:179444534;179444533;179444532 |
| 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/P | rs1430161296  |
-0.645 | 0.106 | N | 0.429 | 0.199 | 0.115124310173 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.52742E-04 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs1430161296 |
-0.645 | 0.106 | N | 0.429 | 0.199 | 0.115124310173 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9425E-04 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | rs1430161296 |
-0.645 | 0.106 | N | 0.429 | 0.199 | 0.115124310173 | gnomAD-4.0.0 | 6.40934E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.42966E-05 | None | 0 | 0 | 9.57822E-06 | 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 | 0.2131 | likely_benign | 0.182 | benign | -0.595 | Destabilizing | 0.002 | N | 0.281 | neutral | N | 0.466092686 | None | None | N |
| S/C | 0.2652 | likely_benign | 0.2096 | benign | -0.567 | Destabilizing | 0.295 | N | 0.45 | neutral | N | 0.483742729 | None | None | N |
| S/D | 0.4202 | ambiguous | 0.3884 | ambiguous | -0.972 | Destabilizing | 0.031 | N | 0.322 | neutral | None | None | None | None | N |
| S/E | 0.7005 | likely_pathogenic | 0.6626 | pathogenic | -1.022 | Destabilizing | 0.031 | N | 0.324 | neutral | None | None | None | None | N |
| S/F | 0.5367 | ambiguous | 0.4968 | ambiguous | -1.148 | Destabilizing | 0.295 | N | 0.465 | neutral | N | 0.479349984 | None | None | N |
| S/G | 0.1061 | likely_benign | 0.0897 | benign | -0.748 | Destabilizing | 0.031 | N | 0.36 | neutral | None | None | None | None | N |
| S/H | 0.5369 | ambiguous | 0.4827 | ambiguous | -1.356 | Destabilizing | 0.628 | D | 0.445 | neutral | None | None | None | None | N |
| S/I | 0.6503 | likely_pathogenic | 0.5912 | pathogenic | -0.303 | Destabilizing | 0.038 | N | 0.409 | neutral | None | None | None | None | N |
| S/K | 0.7674 | likely_pathogenic | 0.7252 | pathogenic | -0.716 | Destabilizing | 0.031 | N | 0.323 | neutral | None | None | None | None | N |
| S/L | 0.2483 | likely_benign | 0.2107 | benign | -0.303 | Destabilizing | 0.016 | N | 0.365 | neutral | None | None | None | None | N |
| S/M | 0.32 | likely_benign | 0.2794 | benign | 0.193 | Stabilizing | 0.356 | N | 0.453 | neutral | None | None | None | None | N |
| S/N | 0.1873 | likely_benign | 0.1492 | benign | -0.712 | Destabilizing | 0.031 | N | 0.346 | neutral | None | None | None | None | N |
| S/P | 0.8842 | likely_pathogenic | 0.8712 | pathogenic | -0.371 | Destabilizing | 0.106 | N | 0.429 | neutral | N | 0.48348924 | None | None | N |
| S/Q | 0.6765 | likely_pathogenic | 0.6226 | pathogenic | -1.073 | Destabilizing | 0.136 | N | 0.416 | neutral | None | None | None | None | N |
| S/R | 0.7418 | likely_pathogenic | 0.6943 | pathogenic | -0.44 | Destabilizing | 0.072 | N | 0.425 | neutral | None | None | None | None | N |
| S/T | 0.0622 | likely_benign | 0.0597 | benign | -0.682 | Destabilizing | None | N | 0.059 | neutral | N | 0.354553904 | None | None | N |
| S/V | 0.5807 | likely_pathogenic | 0.5123 | ambiguous | -0.371 | Destabilizing | 0.016 | N | 0.364 | neutral | None | None | None | None | N |
| S/W | 0.6714 | likely_pathogenic | 0.6622 | pathogenic | -1.132 | Destabilizing | 0.864 | D | 0.455 | neutral | None | None | None | None | N |
| S/Y | 0.4671 | ambiguous | 0.4309 | ambiguous | -0.831 | Destabilizing | 0.295 | N | 0.449 | neutral | N | 0.497242312 | 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.