Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29552 | 88879;88880;88881 | chr2:178554693;178554692;178554691 | chr2:179419420;179419419;179419418 |
| N2AB | 27911 | 83956;83957;83958 | chr2:178554693;178554692;178554691 | chr2:179419420;179419419;179419418 |
| N2A | 26984 | 81175;81176;81177 | chr2:178554693;178554692;178554691 | chr2:179419420;179419419;179419418 |
| N2B | 20487 | 61684;61685;61686 | chr2:178554693;178554692;178554691 | chr2:179419420;179419419;179419418 |
| Novex-1 | 20612 | 62059;62060;62061 | chr2:178554693;178554692;178554691 | chr2:179419420;179419419;179419418 |
| Novex-2 | 20679 | 62260;62261;62262 | chr2:178554693;178554692;178554691 | chr2:179419420;179419419;179419418 |
| 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/A | None | None | 0.981 | N | 0.53 | 0.397 | 0.308278614506 | gnomAD-4.0.0 | 1.591E-06 | None | None | None | None | N | None | 5.65163E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs756935787  |
None | 0.999 | N | 0.755 | 0.369 | 0.399596177874 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| T/I | rs756935787 |
None | 0.999 | N | 0.755 | 0.369 | 0.399596177874 | gnomAD-4.0.0 | 1.23922E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47568E-07 | 1.09789E-05 | 0 |
| T/N | None | None | 0.999 | N | 0.67 | 0.337 | 0.36355261348 | gnomAD-4.0.0 | 6.8416E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99425E-07 | 0 | 0 |
| T/S | rs756935787 |
-1.402 | 0.905 | N | 0.393 | 0.259 | 0.260735089382 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| T/S | rs756935787 |
-1.402 | 0.905 | N | 0.393 | 0.259 | 0.260735089382 | gnomAD-4.0.0 | 4.78912E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87273E-05 | 0 | 3.5977E-06 | 0 | 3.3129E-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 | 0.1485 | likely_benign | 0.1792 | benign | -1.049 | Destabilizing | 0.981 | D | 0.53 | neutral | N | 0.505168362 | None | None | N |
| T/C | 0.4972 | ambiguous | 0.5688 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/D | 0.8177 | likely_pathogenic | 0.8557 | pathogenic | -1.123 | Destabilizing | 0.999 | D | 0.714 | prob.delet. | None | None | None | None | N |
| T/E | 0.7293 | likely_pathogenic | 0.7652 | pathogenic | -0.993 | Destabilizing | 0.999 | D | 0.705 | prob.neutral | None | None | None | None | N |
| T/F | 0.5235 | ambiguous | 0.6413 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| T/G | 0.5021 | ambiguous | 0.5479 | ambiguous | -1.426 | Destabilizing | 0.997 | D | 0.661 | neutral | None | None | None | None | N |
| T/H | 0.4775 | ambiguous | 0.5487 | ambiguous | -1.598 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| T/I | 0.3175 | likely_benign | 0.3923 | ambiguous | -0.088 | Destabilizing | 0.999 | D | 0.755 | deleterious | N | 0.469789076 | None | None | N |
| T/K | 0.5764 | likely_pathogenic | 0.6348 | pathogenic | -0.772 | Destabilizing | 0.999 | D | 0.71 | prob.delet. | None | None | None | None | N |
| T/L | 0.2231 | likely_benign | 0.2834 | benign | -0.088 | Destabilizing | 0.998 | D | 0.635 | neutral | None | None | None | None | N |
| T/M | 0.1306 | likely_benign | 0.1602 | benign | 0.008 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| T/N | 0.271 | likely_benign | 0.3239 | benign | -1.175 | Destabilizing | 0.999 | D | 0.67 | neutral | N | 0.477524531 | None | None | N |
| T/P | 0.7801 | likely_pathogenic | 0.8189 | pathogenic | -0.375 | Destabilizing | 0.999 | D | 0.757 | deleterious | N | 0.511784484 | None | None | N |
| T/Q | 0.436 | ambiguous | 0.4794 | ambiguous | -1.113 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| T/R | 0.4917 | ambiguous | 0.5663 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| T/S | 0.1643 | likely_benign | 0.1957 | benign | -1.418 | Destabilizing | 0.905 | D | 0.393 | neutral | N | 0.515902643 | None | None | N |
| T/V | 0.23 | likely_benign | 0.2727 | benign | -0.375 | Destabilizing | 0.998 | D | 0.548 | neutral | None | None | None | None | N |
| T/W | 0.845 | likely_pathogenic | 0.8941 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| T/Y | 0.5539 | ambiguous | 0.6394 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.842 | 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.