Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19607 | 59044;59045;59046 | chr2:178593389;178593388;178593387 | chr2:179458116;179458115;179458114 |
| N2AB | 17966 | 54121;54122;54123 | chr2:178593389;178593388;178593387 | chr2:179458116;179458115;179458114 |
| N2A | 17039 | 51340;51341;51342 | chr2:178593389;178593388;178593387 | chr2:179458116;179458115;179458114 |
| N2B | 10542 | 31849;31850;31851 | chr2:178593389;178593388;178593387 | chr2:179458116;179458115;179458114 |
| Novex-1 | 10667 | 32224;32225;32226 | chr2:178593389;178593388;178593387 | chr2:179458116;179458115;179458114 |
| Novex-2 | 10734 | 32425;32426;32427 | chr2:178593389;178593388;178593387 | chr2:179458116;179458115;179458114 |
| 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/R | rs758551992  |
-0.177 | 1.0 | N | 0.8 | 0.505 | 0.68625914701 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.55E-05 | 0 |
| G/R | rs758551992 |
-0.177 | 1.0 | N | 0.8 | 0.505 | 0.68625914701 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs758551992 |
-0.177 | 1.0 | N | 0.8 | 0.505 | 0.68625914701 | gnomAD-4.0.0 | 7.69146E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4365E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8002 | likely_pathogenic | 0.7836 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.496741195 | None | None | I |
| G/C | 0.8123 | likely_pathogenic | 0.779 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/D | 0.838 | likely_pathogenic | 0.806 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| G/E | 0.8713 | likely_pathogenic | 0.8508 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.518857921 | None | None | I |
| G/F | 0.9684 | likely_pathogenic | 0.9657 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/H | 0.9217 | likely_pathogenic | 0.9087 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/I | 0.9706 | likely_pathogenic | 0.9681 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/K | 0.9131 | likely_pathogenic | 0.9007 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/L | 0.9502 | likely_pathogenic | 0.9444 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| G/M | 0.9594 | likely_pathogenic | 0.9541 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/N | 0.822 | likely_pathogenic | 0.7959 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | I |
| G/P | 0.9971 | likely_pathogenic | 0.9965 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/Q | 0.8531 | likely_pathogenic | 0.8318 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/R | 0.8292 | likely_pathogenic | 0.8048 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.8 | deleterious | N | 0.502906487 | None | None | I |
| G/S | 0.5477 | ambiguous | 0.5051 | ambiguous | -0.322 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/T | 0.9114 | likely_pathogenic | 0.9028 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/V | 0.9528 | likely_pathogenic | 0.9483 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.534203926 | None | None | I |
| G/W | 0.935 | likely_pathogenic | 0.9229 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/Y | 0.935 | likely_pathogenic | 0.9278 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.757 | deleterious | 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.