Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10074 | 30445;30446;30447 | chr2:178704150;178704149;178704148 | chr2:179568877;179568876;179568875 |
| N2AB | 9757 | 29494;29495;29496 | chr2:178704150;178704149;178704148 | chr2:179568877;179568876;179568875 |
| N2A | 8830 | 26713;26714;26715 | chr2:178704150;178704149;178704148 | chr2:179568877;179568876;179568875 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | rs1441211227  |
0.044 | 0.999 | None | 0.597 | 0.36 | 0.227260227426 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65453E-04 |
| E/A | rs1441211227 |
0.044 | 0.999 | None | 0.597 | 0.36 | 0.227260227426 | gnomAD-4.0.0 | 3.18376E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71651E-06 | 0 | 0 |
| E/D | None | None | 0.999 | None | 0.493 | 0.225 | 0.144782658237 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| E/K | rs794729402 |
0.749 | 1.0 | None | 0.637 | 0.319 | 0.201204373187 | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | I | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.40252E-04 |
| E/K | rs794729402 |
0.749 | 1.0 | None | 0.637 | 0.319 | 0.201204373187 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs794729402 |
0.749 | 1.0 | None | 0.637 | 0.319 | 0.201204373187 | gnomAD-4.0.0 | 1.36355E-05 | None | None | None | None | I | None | 1.33497E-05 | 3.33422E-05 | None | 0 | 0 | None | 0 | 1.64366E-04 | 1.52569E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.3563 | ambiguous | 0.3658 | ambiguous | -0.233 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | I |
| E/C | 0.9777 | likely_pathogenic | 0.9793 | pathogenic | -0.064 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| E/D | 0.552 | ambiguous | 0.5919 | pathogenic | -0.368 | Destabilizing | 0.999 | D | 0.493 | neutral | None | None | None | None | I |
| E/F | 0.9429 | likely_pathogenic | 0.9484 | pathogenic | -0.16 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | I |
| E/G | 0.6172 | likely_pathogenic | 0.6402 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | I |
| E/H | 0.8361 | likely_pathogenic | 0.851 | pathogenic | 0.196 | Stabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| E/I | 0.6154 | likely_pathogenic | 0.624 | pathogenic | 0.192 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | I |
| E/K | 0.3947 | ambiguous | 0.4151 | ambiguous | 0.393 | Stabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | I |
| E/L | 0.6866 | likely_pathogenic | 0.7131 | pathogenic | 0.192 | Stabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| E/M | 0.7152 | likely_pathogenic | 0.7328 | pathogenic | 0.153 | Stabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | I |
| E/N | 0.7511 | likely_pathogenic | 0.775 | pathogenic | 0.092 | Stabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| E/P | 0.978 | likely_pathogenic | 0.9864 | pathogenic | 0.07 | Stabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | I |
| E/Q | 0.3009 | likely_benign | 0.31 | benign | 0.109 | Stabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | I |
| E/R | 0.5892 | likely_pathogenic | 0.621 | pathogenic | 0.625 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| E/S | 0.5585 | ambiguous | 0.5636 | ambiguous | -0.058 | Destabilizing | 0.999 | D | 0.644 | neutral | None | None | None | None | I |
| E/T | 0.4828 | ambiguous | 0.4795 | ambiguous | 0.086 | Stabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | I |
| E/V | 0.3984 | ambiguous | 0.4119 | ambiguous | 0.07 | Stabilizing | 1.0 | D | 0.634 | neutral | None | None | None | None | I |
| E/W | 0.9852 | likely_pathogenic | 0.9868 | pathogenic | -0.041 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| E/Y | 0.9347 | likely_pathogenic | 0.9387 | pathogenic | 0.083 | Stabilizing | 1.0 | D | 0.681 | 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.