Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32639 | 98140;98141;98142 | chr2:178540251;178540250;178540249 | chr2:179404978;179404977;179404976 |
| N2AB | 30998 | 93217;93218;93219 | chr2:178540251;178540250;178540249 | chr2:179404978;179404977;179404976 |
| N2A | 30071 | 90436;90437;90438 | chr2:178540251;178540250;178540249 | chr2:179404978;179404977;179404976 |
| N2B | 23574 | 70945;70946;70947 | chr2:178540251;178540250;178540249 | chr2:179404978;179404977;179404976 |
| Novex-1 | 23699 | 71320;71321;71322 | chr2:178540251;178540250;178540249 | chr2:179404978;179404977;179404976 |
| Novex-2 | 23766 | 71521;71522;71523 | chr2:178540251;178540250;178540249 | chr2:179404978;179404977;179404976 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | None | None | 0.985 | N | 0.737 | 0.385 | 0.581442141994 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| M/R | rs1199241360  |
-1.142 | 0.998 | N | 0.816 | 0.469 | 0.675167215345 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| M/R | rs1199241360 |
-1.142 | 0.998 | N | 0.816 | 0.469 | 0.675167215345 | gnomAD-4.0.0 | 1.59118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.903 | likely_pathogenic | 0.9159 | pathogenic | -2.223 | Highly Destabilizing | 0.989 | D | 0.761 | deleterious | None | None | None | None | N |
| M/C | 0.8193 | likely_pathogenic | 0.7882 | pathogenic | -1.943 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| M/D | 0.9977 | likely_pathogenic | 0.998 | pathogenic | -1.942 | Destabilizing | 0.999 | D | 0.836 | deleterious | None | None | None | None | N |
| M/E | 0.9616 | likely_pathogenic | 0.9654 | pathogenic | -1.694 | Destabilizing | 0.999 | D | 0.804 | deleterious | None | None | None | None | N |
| M/F | 0.4985 | ambiguous | 0.4634 | ambiguous | -0.828 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | N |
| M/G | 0.9708 | likely_pathogenic | 0.9736 | pathogenic | -2.72 | Highly Destabilizing | 0.995 | D | 0.809 | deleterious | None | None | None | None | N |
| M/H | 0.9011 | likely_pathogenic | 0.9006 | pathogenic | -2.351 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| M/I | 0.8033 | likely_pathogenic | 0.7947 | pathogenic | -0.783 | Destabilizing | 0.985 | D | 0.737 | prob.delet. | N | 0.453120601 | None | None | N |
| M/K | 0.5643 | likely_pathogenic | 0.6082 | pathogenic | -1.23 | Destabilizing | 0.994 | D | 0.803 | deleterious | N | 0.417199874 | None | None | N |
| M/L | 0.3614 | ambiguous | 0.4206 | ambiguous | -0.783 | Destabilizing | 0.927 | D | 0.501 | neutral | N | 0.492041562 | None | None | N |
| M/N | 0.971 | likely_pathogenic | 0.9691 | pathogenic | -1.675 | Destabilizing | 0.999 | D | 0.812 | deleterious | None | None | None | None | N |
| M/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.246 | Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | N |
| M/Q | 0.6991 | likely_pathogenic | 0.7032 | pathogenic | -1.334 | Destabilizing | 0.999 | D | 0.784 | deleterious | None | None | None | None | N |
| M/R | 0.6699 | likely_pathogenic | 0.7051 | pathogenic | -1.387 | Destabilizing | 0.998 | D | 0.816 | deleterious | N | 0.457854417 | None | None | N |
| M/S | 0.9443 | likely_pathogenic | 0.9471 | pathogenic | -2.229 | Highly Destabilizing | 0.995 | D | 0.787 | deleterious | None | None | None | None | N |
| M/T | 0.8945 | likely_pathogenic | 0.9055 | pathogenic | -1.844 | Destabilizing | 0.994 | D | 0.802 | deleterious | N | 0.507243088 | None | None | N |
| M/V | 0.3915 | ambiguous | 0.3858 | ambiguous | -1.246 | Destabilizing | 0.985 | D | 0.591 | neutral | N | 0.479920414 | None | None | N |
| M/W | 0.8732 | likely_pathogenic | 0.8724 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| M/Y | 0.6884 | likely_pathogenic | 0.6605 | pathogenic | -1.119 | Destabilizing | 0.999 | D | 0.831 | 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.