Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30435 | 91528;91529;91530 | chr2:178551228;178551227;178551226 | chr2:179415955;179415954;179415953 |
| N2AB | 28794 | 86605;86606;86607 | chr2:178551228;178551227;178551226 | chr2:179415955;179415954;179415953 |
| N2A | 27867 | 83824;83825;83826 | chr2:178551228;178551227;178551226 | chr2:179415955;179415954;179415953 |
| N2B | 21370 | 64333;64334;64335 | chr2:178551228;178551227;178551226 | chr2:179415955;179415954;179415953 |
| Novex-1 | 21495 | 64708;64709;64710 | chr2:178551228;178551227;178551226 | chr2:179415955;179415954;179415953 |
| Novex-2 | 21562 | 64909;64910;64911 | chr2:178551228;178551227;178551226 | chr2:179415955;179415954;179415953 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1060500591  |
-0.049 | 1.0 | N | 0.771 | 0.526 | 0.661599691914 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| T/I | rs1060500591 |
-0.049 | 1.0 | N | 0.771 | 0.526 | 0.661599691914 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| T/I | rs1060500591 |
-0.049 | 1.0 | N | 0.771 | 0.526 | 0.661599691914 | gnomAD-4.0.0 | 6.19929E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.39248E-05 | 0 | 1.60143E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.5037 | ambiguous | 0.5562 | ambiguous | -0.717 | Destabilizing | 0.999 | D | 0.465 | neutral | N | 0.486149039 | None | None | N |
| T/C | 0.8369 | likely_pathogenic | 0.8565 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| T/D | 0.7712 | likely_pathogenic | 0.8127 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| T/E | 0.8726 | likely_pathogenic | 0.9038 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| T/F | 0.9008 | likely_pathogenic | 0.9253 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| T/G | 0.4987 | ambiguous | 0.5376 | ambiguous | -0.968 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| T/H | 0.7172 | likely_pathogenic | 0.7728 | pathogenic | -1.334 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| T/I | 0.9369 | likely_pathogenic | 0.9523 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.519510393 | None | None | N |
| T/K | 0.7066 | likely_pathogenic | 0.76 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| T/L | 0.5926 | likely_pathogenic | 0.6446 | pathogenic | -0.14 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| T/M | 0.4491 | ambiguous | 0.4952 | ambiguous | 0.269 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/N | 0.3234 | likely_benign | 0.3532 | ambiguous | -0.788 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.471434918 | None | None | N |
| T/P | 0.9185 | likely_pathogenic | 0.9413 | pathogenic | -0.3 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.526258343 | None | None | N |
| T/Q | 0.6656 | likely_pathogenic | 0.709 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/R | 0.677 | likely_pathogenic | 0.7417 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| T/S | 0.1966 | likely_benign | 0.2122 | benign | -0.968 | Destabilizing | 0.999 | D | 0.497 | neutral | N | 0.484003656 | None | None | N |
| T/V | 0.8347 | likely_pathogenic | 0.8612 | pathogenic | -0.3 | Destabilizing | 0.999 | D | 0.556 | neutral | None | None | None | None | N |
| T/W | 0.971 | likely_pathogenic | 0.9792 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/Y | 0.8968 | likely_pathogenic | 0.9186 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.767 | deleterious | 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.