Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24359 | 73300;73301;73302 | chr2:178573057;178573056;178573055 | chr2:179437784;179437783;179437782 |
| N2AB | 22718 | 68377;68378;68379 | chr2:178573057;178573056;178573055 | chr2:179437784;179437783;179437782 |
| N2A | 21791 | 65596;65597;65598 | chr2:178573057;178573056;178573055 | chr2:179437784;179437783;179437782 |
| N2B | 15294 | 46105;46106;46107 | chr2:178573057;178573056;178573055 | chr2:179437784;179437783;179437782 |
| Novex-1 | 15419 | 46480;46481;46482 | chr2:178573057;178573056;178573055 | chr2:179437784;179437783;179437782 |
| Novex-2 | 15486 | 46681;46682;46683 | chr2:178573057;178573056;178573055 | chr2:179437784;179437783;179437782 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/T | rs1368475411  |
-1.784 | 0.024 | N | 0.58 | 0.363 | 0.602933245068 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| M/T | rs1368475411 |
-1.784 | 0.024 | N | 0.58 | 0.363 | 0.602933245068 | gnomAD-4.0.0 | 2.56396E-06 | None | None | None | None | N | None | 1.69245E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39427E-06 | 0 | 0 |
| M/V | rs1469212493 |
-0.937 | None | N | 0.223 | 0.317 | 0.456368778954 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.50195E-04 | None | 0 | None | 0 | 0 | 0 |
| M/V | rs1469212493 |
-0.937 | None | N | 0.223 | 0.317 | 0.456368778954 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94024E-04 | None | 0 | 0 | 0 | 0 | 0 |
| M/V | rs1469212493 |
-0.937 | None | N | 0.223 | 0.317 | 0.456368778954 | gnomAD-4.0.0 | 6.5754E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.94024E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.2623 | likely_benign | 0.2283 | benign | -2.217 | Highly Destabilizing | 0.007 | N | 0.499 | neutral | None | None | None | None | N |
| M/C | 0.5039 | ambiguous | 0.4989 | ambiguous | -2.214 | Highly Destabilizing | 0.628 | D | 0.635 | neutral | None | None | None | None | N |
| M/D | 0.8333 | likely_pathogenic | 0.8213 | pathogenic | -1.725 | Destabilizing | 0.136 | N | 0.657 | neutral | None | None | None | None | N |
| M/E | 0.4611 | ambiguous | 0.4321 | ambiguous | -1.515 | Destabilizing | 0.136 | N | 0.602 | neutral | None | None | None | None | N |
| M/F | 0.3023 | likely_benign | 0.2781 | benign | -0.669 | Destabilizing | 0.072 | N | 0.589 | neutral | None | None | None | None | N |
| M/G | 0.6271 | likely_pathogenic | 0.5779 | pathogenic | -2.697 | Highly Destabilizing | 0.136 | N | 0.622 | neutral | None | None | None | None | N |
| M/H | 0.3611 | ambiguous | 0.3581 | ambiguous | -2.15 | Highly Destabilizing | 0.628 | D | 0.625 | neutral | None | None | None | None | N |
| M/I | 0.168 | likely_benign | 0.1499 | benign | -0.857 | Destabilizing | None | N | 0.221 | neutral | N | 0.31690238 | None | None | N |
| M/K | 0.1354 | likely_benign | 0.1334 | benign | -1.327 | Destabilizing | 0.106 | N | 0.625 | neutral | N | 0.405577371 | None | None | N |
| M/L | 0.1086 | likely_benign | 0.1074 | benign | -0.857 | Destabilizing | None | N | 0.216 | neutral | N | 0.36011444 | None | None | N |
| M/N | 0.4766 | ambiguous | 0.4735 | ambiguous | -1.605 | Destabilizing | 0.628 | D | 0.643 | neutral | None | None | None | None | N |
| M/P | 0.9874 | likely_pathogenic | 0.9809 | pathogenic | -1.29 | Destabilizing | 0.628 | D | 0.642 | neutral | None | None | None | None | N |
| M/Q | 0.2215 | likely_benign | 0.2078 | benign | -1.348 | Destabilizing | 0.628 | D | 0.623 | neutral | None | None | None | None | N |
| M/R | 0.1542 | likely_benign | 0.1386 | benign | -1.312 | Destabilizing | 0.106 | N | 0.663 | neutral | N | 0.401286272 | None | None | N |
| M/S | 0.3304 | likely_benign | 0.3092 | benign | -2.247 | Highly Destabilizing | 0.136 | N | 0.608 | neutral | None | None | None | None | N |
| M/T | 0.1266 | likely_benign | 0.1204 | benign | -1.907 | Destabilizing | 0.024 | N | 0.58 | neutral | N | 0.386876967 | None | None | N |
| M/V | 0.0609 | likely_benign | 0.0684 | benign | -1.29 | Destabilizing | None | N | 0.223 | neutral | N | 0.343934266 | None | None | N |
| M/W | 0.5997 | likely_pathogenic | 0.5792 | pathogenic | -0.923 | Destabilizing | 0.864 | D | 0.641 | neutral | None | None | None | None | N |
| M/Y | 0.4836 | ambiguous | 0.4846 | ambiguous | -0.915 | Destabilizing | 0.136 | N | 0.661 | 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.