Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28757 | 86494;86495;86496 | chr2:178559863;178559862;178559861 | chr2:179424590;179424589;179424588 |
| N2AB | 27116 | 81571;81572;81573 | chr2:178559863;178559862;178559861 | chr2:179424590;179424589;179424588 |
| N2A | 26189 | 78790;78791;78792 | chr2:178559863;178559862;178559861 | chr2:179424590;179424589;179424588 |
| N2B | 19692 | 59299;59300;59301 | chr2:178559863;178559862;178559861 | chr2:179424590;179424589;179424588 |
| Novex-1 | 19817 | 59674;59675;59676 | chr2:178559863;178559862;178559861 | chr2:179424590;179424589;179424588 |
| Novex-2 | 19884 | 59875;59876;59877 | chr2:178559863;178559862;178559861 | chr2:179424590;179424589;179424588 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs778722165  |
-0.37 | 0.9 | N | 0.481 | 0.343 | 0.426551566703 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.96297E-04 | None | 0 | 8.89E-06 | 0 |
| D/A | rs778722165 |
-0.37 | 0.9 | N | 0.481 | 0.343 | 0.426551566703 | gnomAD-4.0.0 | 1.43843E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.47343E-04 | 3.59798E-06 | 1.62368E-04 | 1.65667E-05 |
| D/G | rs778722165 |
-0.922 | 0.978 | N | 0.479 | 0.4 | 0.373173300195 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/N | rs946879778 |
-0.455 | 0.978 | N | 0.509 | 0.352 | 0.352476196916 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 3.32447E-04 |
| D/N | rs946879778 |
-0.455 | 0.978 | N | 0.509 | 0.352 | 0.352476196916 | gnomAD-4.0.0 | 4.10978E-06 | None | None | None | None | N | None | 0 | 2.23674E-05 | None | 0 | 0 | None | 0 | 0 | 4.49751E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2549 | likely_benign | 0.265 | benign | -0.134 | Destabilizing | 0.9 | D | 0.481 | neutral | N | 0.498450986 | None | None | N |
| D/C | 0.7033 | likely_pathogenic | 0.7156 | pathogenic | 0.037 | Stabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| D/E | 0.32 | likely_benign | 0.2839 | benign | -0.213 | Destabilizing | 0.948 | D | 0.517 | neutral | N | 0.514780814 | None | None | N |
| D/F | 0.7774 | likely_pathogenic | 0.7557 | pathogenic | -0.072 | Destabilizing | 0.999 | D | 0.657 | neutral | None | None | None | None | N |
| D/G | 0.1983 | likely_benign | 0.2023 | benign | -0.323 | Destabilizing | 0.978 | D | 0.479 | neutral | N | 0.494780909 | None | None | N |
| D/H | 0.4311 | ambiguous | 0.4202 | ambiguous | 0.173 | Stabilizing | 1.0 | D | 0.507 | neutral | N | 0.506555289 | None | None | N |
| D/I | 0.6705 | likely_pathogenic | 0.6192 | pathogenic | 0.312 | Stabilizing | 0.998 | D | 0.64 | neutral | None | None | None | None | N |
| D/K | 0.6717 | likely_pathogenic | 0.6291 | pathogenic | 0.371 | Stabilizing | 0.983 | D | 0.459 | neutral | None | None | None | None | N |
| D/L | 0.5928 | likely_pathogenic | 0.5896 | pathogenic | 0.312 | Stabilizing | 0.998 | D | 0.632 | neutral | None | None | None | None | N |
| D/M | 0.8199 | likely_pathogenic | 0.8041 | pathogenic | 0.341 | Stabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| D/N | 0.1415 | likely_benign | 0.1355 | benign | 0.084 | Stabilizing | 0.978 | D | 0.509 | neutral | N | 0.50554133 | None | None | N |
| D/P | 0.5844 | likely_pathogenic | 0.6149 | pathogenic | 0.186 | Stabilizing | 0.998 | D | 0.475 | neutral | None | None | None | None | N |
| D/Q | 0.5445 | ambiguous | 0.5201 | ambiguous | 0.128 | Stabilizing | 0.998 | D | 0.491 | neutral | None | None | None | None | N |
| D/R | 0.6633 | likely_pathogenic | 0.6342 | pathogenic | 0.556 | Stabilizing | 0.998 | D | 0.546 | neutral | None | None | None | None | N |
| D/S | 0.1288 | likely_benign | 0.1345 | benign | -0.027 | Destabilizing | 0.487 | N | 0.295 | neutral | None | None | None | None | N |
| D/T | 0.3029 | likely_benign | 0.3012 | benign | 0.123 | Stabilizing | 0.967 | D | 0.479 | neutral | None | None | None | None | N |
| D/V | 0.4483 | ambiguous | 0.4086 | ambiguous | 0.186 | Stabilizing | 0.997 | D | 0.642 | neutral | N | 0.517822689 | None | None | N |
| D/W | 0.953 | likely_pathogenic | 0.9465 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| D/Y | 0.4321 | ambiguous | 0.4 | ambiguous | 0.163 | Stabilizing | 0.999 | D | 0.653 | neutral | N | 0.518329668 | 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.