Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33296 | 100111;100112;100113 | chr2:178537223;178537222;178537221 | chr2:179401950;179401949;179401948 |
| N2AB | 31655 | 95188;95189;95190 | chr2:178537223;178537222;178537221 | chr2:179401950;179401949;179401948 |
| N2A | 30728 | 92407;92408;92409 | chr2:178537223;178537222;178537221 | chr2:179401950;179401949;179401948 |
| N2B | 24231 | 72916;72917;72918 | chr2:178537223;178537222;178537221 | chr2:179401950;179401949;179401948 |
| Novex-1 | 24356 | 73291;73292;73293 | chr2:178537223;178537222;178537221 | chr2:179401950;179401949;179401948 |
| Novex-2 | 24423 | 73492;73493;73494 | chr2:178537223;178537222;178537221 | chr2:179401950;179401949;179401948 |
| 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/E | rs771448420  |
None | 0.777 | N | 0.643 | 0.343 | 0.484985748688 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
| G/R | rs762113070 |
None | 0.999 | N | 0.897 | 0.406 | 0.689113965555 | gnomAD-4.0.0 | 1.37916E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53421E-05 | None | 0 | 0 | 9.05764E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5642 | likely_pathogenic | 0.572 | pathogenic | -0.335 | Destabilizing | 0.995 | D | 0.653 | neutral | N | 0.503416136 | None | None | N |
| G/C | 0.8375 | likely_pathogenic | 0.8557 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/D | 0.8284 | likely_pathogenic | 0.8368 | pathogenic | -0.721 | Destabilizing | 0.998 | D | 0.801 | deleterious | None | None | None | None | N |
| G/E | 0.8467 | likely_pathogenic | 0.8518 | pathogenic | -0.875 | Destabilizing | 0.777 | D | 0.643 | neutral | N | 0.49360087 | None | None | N |
| G/F | 0.9519 | likely_pathogenic | 0.9546 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/H | 0.969 | likely_pathogenic | 0.9706 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/I | 0.9081 | likely_pathogenic | 0.9222 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/K | 0.9693 | likely_pathogenic | 0.9692 | pathogenic | -0.994 | Destabilizing | 0.998 | D | 0.872 | deleterious | None | None | None | None | N |
| G/L | 0.9182 | likely_pathogenic | 0.9239 | pathogenic | -0.432 | Destabilizing | 0.999 | D | 0.899 | deleterious | None | None | None | None | N |
| G/M | 0.9573 | likely_pathogenic | 0.9628 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/N | 0.9108 | likely_pathogenic | 0.9183 | pathogenic | -0.623 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| G/P | 0.9864 | likely_pathogenic | 0.9819 | pathogenic | -0.367 | Destabilizing | 0.999 | D | 0.892 | deleterious | None | None | None | None | N |
| G/Q | 0.9387 | likely_pathogenic | 0.9411 | pathogenic | -0.901 | Destabilizing | 0.998 | D | 0.899 | deleterious | None | None | None | None | N |
| G/R | 0.9446 | likely_pathogenic | 0.9474 | pathogenic | -0.515 | Destabilizing | 0.999 | D | 0.897 | deleterious | N | 0.479130692 | None | None | N |
| G/S | 0.4916 | ambiguous | 0.4957 | ambiguous | -0.753 | Destabilizing | 0.999 | D | 0.744 | deleterious | None | None | None | None | N |
| G/T | 0.8165 | likely_pathogenic | 0.8256 | pathogenic | -0.84 | Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | N |
| G/V | 0.8575 | likely_pathogenic | 0.8729 | pathogenic | -0.367 | Destabilizing | 0.999 | D | 0.897 | deleterious | N | 0.47949954 | None | None | N |
| G/W | 0.9401 | likely_pathogenic | 0.9401 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| G/Y | 0.9401 | likely_pathogenic | 0.9444 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.887 | 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.