Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4968 | 15127;15128;15129 | chr2:178735544;178735543;178735542 | chr2:179600271;179600270;179600269 |
| N2AB | 4651 | 14176;14177;14178 | chr2:178735544;178735543;178735542 | chr2:179600271;179600270;179600269 |
| N2A | 3724 | 11395;11396;11397 | chr2:178735544;178735543;178735542 | chr2:179600271;179600270;179600269 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs762238210  |
None | 0.999 | D | 0.565 | 0.262 | 0.356690202451 | gnomAD-4.0.0 | 1.10435E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35513E-05 | 0 | 1.67403E-05 |
| S/N | rs1165201342 |
0.278 | 0.999 | N | 0.718 | 0.292 | 0.356690202451 | gnomAD-2.1.1 | 4.21E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.19E-06 | 0 |
| S/N | rs1165201342 |
0.278 | 0.999 | N | 0.718 | 0.292 | 0.356690202451 | gnomAD-4.0.0 | 1.62688E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.9022E-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 | 0.1015 | likely_benign | 0.1092 | benign | -0.436 | Destabilizing | 0.998 | D | 0.525 | neutral | None | None | None | None | I |
| S/C | 0.1343 | likely_benign | 0.1456 | benign | -0.155 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | D | 0.604332125 | None | None | I |
| S/D | 0.2929 | likely_benign | 0.3741 | ambiguous | -0.008 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | I |
| S/E | 0.3853 | ambiguous | 0.4691 | ambiguous | -0.122 | Destabilizing | 0.999 | D | 0.722 | prob.delet. | None | None | None | None | I |
| S/F | 0.1548 | likely_benign | 0.1709 | benign | -1.207 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| S/G | 0.0883 | likely_benign | 0.0986 | benign | -0.477 | Destabilizing | 0.999 | D | 0.565 | neutral | D | 0.579773377 | None | None | I |
| S/H | 0.2575 | likely_benign | 0.3019 | benign | -1.075 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| S/I | 0.1143 | likely_benign | 0.1304 | benign | -0.45 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.556705956 | None | None | I |
| S/K | 0.443 | ambiguous | 0.5295 | ambiguous | -0.291 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | I |
| S/L | 0.1153 | likely_benign | 0.1244 | benign | -0.45 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| S/M | 0.1914 | likely_benign | 0.213 | benign | 0.001 | Stabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | I |
| S/N | 0.1029 | likely_benign | 0.12 | benign | 0.01 | Stabilizing | 0.999 | D | 0.718 | prob.delet. | N | 0.506786063 | None | None | I |
| S/P | 0.5372 | ambiguous | 0.6259 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| S/Q | 0.3712 | ambiguous | 0.4367 | ambiguous | -0.321 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| S/R | 0.3608 | ambiguous | 0.4396 | ambiguous | -0.106 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.505239937 | None | None | I |
| S/T | 0.0824 | likely_benign | 0.0894 | benign | -0.117 | Destabilizing | 0.999 | D | 0.569 | neutral | N | 0.512949653 | None | None | I |
| S/V | 0.1489 | likely_benign | 0.1711 | benign | -0.423 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | I |
| S/W | 0.3391 | likely_benign | 0.3752 | ambiguous | -1.206 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | I |
| S/Y | 0.1658 | likely_benign | 0.1844 | benign | -0.92 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | 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.