Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33540 | 100843;100844;100845 | chr2:178536129;178536128;178536127 | chr2:179400856;179400855;179400854 |
| N2AB | 31899 | 95920;95921;95922 | chr2:178536129;178536128;178536127 | chr2:179400856;179400855;179400854 |
| N2A | 30972 | 93139;93140;93141 | chr2:178536129;178536128;178536127 | chr2:179400856;179400855;179400854 |
| N2B | 24475 | 73648;73649;73650 | chr2:178536129;178536128;178536127 | chr2:179400856;179400855;179400854 |
| Novex-1 | 24600 | 74023;74024;74025 | chr2:178536129;178536128;178536127 | chr2:179400856;179400855;179400854 |
| Novex-2 | 24667 | 74224;74225;74226 | chr2:178536129;178536128;178536127 | chr2:179400856;179400855;179400854 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | 1.0 | D | 0.723 | 0.571 | 0.775112900452 | gnomAD-4.0.0 | 1.59166E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85886E-06 | 0 | 0 |
| G/V | rs1691396278  |
None | 1.0 | N | 0.725 | 0.538 | 0.880811135049 | gnomAD-4.0.0 | 1.59171E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02572E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3116 | likely_benign | 0.2513 | benign | -0.262 | Destabilizing | 1.0 | D | 0.579 | neutral | D | 0.52422663 | None | None | I |
| G/C | 0.5018 | ambiguous | 0.3844 | ambiguous | -0.888 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | I |
| G/D | 0.3783 | ambiguous | 0.2915 | benign | -0.586 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | I |
| G/E | 0.4616 | ambiguous | 0.3623 | ambiguous | -0.752 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.515548432 | None | None | I |
| G/F | 0.8989 | likely_pathogenic | 0.8388 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| G/H | 0.6551 | likely_pathogenic | 0.5614 | ambiguous | -0.44 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| G/I | 0.6802 | likely_pathogenic | 0.5616 | ambiguous | -0.431 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/K | 0.7397 | likely_pathogenic | 0.6727 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| G/L | 0.8111 | likely_pathogenic | 0.7123 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| G/M | 0.8156 | likely_pathogenic | 0.7353 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | I |
| G/N | 0.3419 | ambiguous | 0.2483 | benign | -0.468 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| G/P | 0.8828 | likely_pathogenic | 0.8161 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| G/Q | 0.5657 | likely_pathogenic | 0.5062 | ambiguous | -0.76 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | I |
| G/R | 0.6187 | likely_pathogenic | 0.5657 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.529595164 | None | None | I |
| G/S | 0.1312 | likely_benign | 0.1077 | benign | -0.61 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| G/T | 0.3601 | ambiguous | 0.2671 | benign | -0.708 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| G/V | 0.5618 | ambiguous | 0.4583 | ambiguous | -0.343 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.489517898 | None | None | I |
| G/W | 0.8355 | likely_pathogenic | 0.7847 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/Y | 0.8015 | likely_pathogenic | 0.6988 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | 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.