Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34383 | 103372;103373;103374 | chr2:178533468;178533467;178533466 | chr2:179398195;179398194;179398193 |
| N2AB | 32742 | 98449;98450;98451 | chr2:178533468;178533467;178533466 | chr2:179398195;179398194;179398193 |
| N2A | 31815 | 95668;95669;95670 | chr2:178533468;178533467;178533466 | chr2:179398195;179398194;179398193 |
| N2B | 25318 | 76177;76178;76179 | chr2:178533468;178533467;178533466 | chr2:179398195;179398194;179398193 |
| Novex-1 | 25443 | 76552;76553;76554 | chr2:178533468;178533467;178533466 | chr2:179398195;179398194;179398193 |
| Novex-2 | 25510 | 76753;76754;76755 | chr2:178533468;178533467;178533466 | chr2:179398195;179398194;179398193 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | None | None | 0.998 | N | 0.61 | 0.593 | 0.478222008075 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| E/Q | rs148525155  |
-0.821 | 0.999 | N | 0.669 | 0.312 | None | gnomAD-2.1.1 | 3.79394E-03 | None | None | None | None | I | None | 1.24008E-04 | 1.41515E-04 | None | 0 | 0 | None | 7.19566E-03 | None | 2.60542E-02 | 1.26622E-03 | 3.09336E-03 |
| E/Q | rs148525155 |
-0.821 | 0.999 | N | 0.669 | 0.312 | None | gnomAD-3.1.2 | 2.74649E-03 | None | None | None | None | I | None | 9.65E-05 | 1.3089E-04 | 0 | 0 | 0 | None | 2.68311E-02 | 0 | 1.39653E-03 | 5.99669E-03 | 1.43678E-03 |
| E/Q | rs148525155 |
-0.821 | 0.999 | N | 0.669 | 0.312 | None | 1000 genomes | 2.19649E-03 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 4E-03 | None | None | None | 7.2E-03 | None |
| E/Q | rs148525155 |
-0.821 | 0.999 | N | 0.669 | 0.312 | None | gnomAD-4.0.0 | 2.39467E-03 | None | None | None | None | I | None | 1.33252E-04 | 1.16651E-04 | None | 0 | 0 | None | 2.66735E-02 | 2.31099E-03 | 1.16399E-03 | 7.16984E-03 | 1.60077E-03 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8574 | likely_pathogenic | 0.8592 | pathogenic | -0.644 | Destabilizing | 0.998 | D | 0.61 | neutral | N | 0.511953553 | None | None | I |
| E/C | 0.9923 | likely_pathogenic | 0.9936 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| E/D | 0.8468 | likely_pathogenic | 0.7854 | pathogenic | -1.31 | Destabilizing | 0.434 | N | 0.265 | neutral | N | 0.443805764 | None | None | I |
| E/F | 0.9957 | likely_pathogenic | 0.9948 | pathogenic | 0.195 | Stabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| E/G | 0.886 | likely_pathogenic | 0.8928 | pathogenic | -1.069 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.488267358 | None | None | I |
| E/H | 0.9816 | likely_pathogenic | 0.9773 | pathogenic | -0.126 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| E/I | 0.971 | likely_pathogenic | 0.9704 | pathogenic | 0.533 | Stabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| E/K | 0.9464 | likely_pathogenic | 0.9405 | pathogenic | -0.719 | Destabilizing | 0.998 | D | 0.53 | neutral | N | 0.494021153 | None | None | I |
| E/L | 0.975 | likely_pathogenic | 0.9756 | pathogenic | 0.533 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| E/M | 0.9768 | likely_pathogenic | 0.9777 | pathogenic | 0.94 | Stabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| E/N | 0.9622 | likely_pathogenic | 0.9536 | pathogenic | -1.311 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | I |
| E/P | 0.9849 | likely_pathogenic | 0.9856 | pathogenic | 0.163 | Stabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| E/Q | 0.7696 | likely_pathogenic | 0.7569 | pathogenic | -1.105 | Destabilizing | 0.999 | D | 0.669 | neutral | N | 0.489519411 | None | None | I |
| E/R | 0.9518 | likely_pathogenic | 0.9496 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| E/S | 0.9005 | likely_pathogenic | 0.8908 | pathogenic | -1.655 | Destabilizing | 0.997 | D | 0.574 | neutral | None | None | None | None | I |
| E/T | 0.944 | likely_pathogenic | 0.9368 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| E/V | 0.9245 | likely_pathogenic | 0.9255 | pathogenic | 0.163 | Stabilizing | 1.0 | D | 0.757 | deleterious | N | 0.517476803 | None | None | I |
| E/W | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | 0.441 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| E/Y | 0.9923 | likely_pathogenic | 0.9913 | pathogenic | 0.449 | Stabilizing | 1.0 | D | 0.799 | 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.