Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24051 | 72376;72377;72378 | chr2:178573981;178573980;178573979 | chr2:179438708;179438707;179438706 |
| N2AB | 22410 | 67453;67454;67455 | chr2:178573981;178573980;178573979 | chr2:179438708;179438707;179438706 |
| N2A | 21483 | 64672;64673;64674 | chr2:178573981;178573980;178573979 | chr2:179438708;179438707;179438706 |
| N2B | 14986 | 45181;45182;45183 | chr2:178573981;178573980;178573979 | chr2:179438708;179438707;179438706 |
| Novex-1 | 15111 | 45556;45557;45558 | chr2:178573981;178573980;178573979 | chr2:179438708;179438707;179438706 |
| Novex-2 | 15178 | 45757;45758;45759 | chr2:178573981;178573980;178573979 | chr2:179438708;179438707;179438706 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs749531610  |
-1.776 | 1.0 | N | 0.694 | 0.37 | 0.208000267992 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/G | rs749531610 |
-1.776 | 1.0 | N | 0.694 | 0.37 | 0.208000267992 | gnomAD-4.0.0 | 1.59223E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85946E-06 | 0 | 0 |
| A/T | rs1443600141 |
-1.394 | 1.0 | N | 0.815 | 0.385 | 0.18995819373 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/T | rs1443600141 |
-1.394 | 1.0 | N | 0.815 | 0.385 | 0.18995819373 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs1443600141 |
-1.394 | 1.0 | N | 0.815 | 0.385 | 0.18995819373 | gnomAD-4.0.0 | 6.19867E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78189E-06 | 0 | 3.20338E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.809 | likely_pathogenic | 0.7908 | pathogenic | -1.491 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/D | 0.9922 | likely_pathogenic | 0.9883 | pathogenic | -2.191 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | N | 0.511285553 | None | None | N |
| A/E | 0.9915 | likely_pathogenic | 0.9876 | pathogenic | -2.022 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| A/F | 0.9591 | likely_pathogenic | 0.9519 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/G | 0.2576 | likely_benign | 0.2333 | benign | -1.723 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.481571503 | None | None | N |
| A/H | 0.9957 | likely_pathogenic | 0.9939 | pathogenic | -2.078 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/I | 0.8606 | likely_pathogenic | 0.8409 | pathogenic | 0.044 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/K | 0.9971 | likely_pathogenic | 0.9955 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/L | 0.8003 | likely_pathogenic | 0.7886 | pathogenic | 0.044 | Stabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| A/M | 0.8288 | likely_pathogenic | 0.8168 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/N | 0.9854 | likely_pathogenic | 0.9799 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| A/P | 0.9937 | likely_pathogenic | 0.9919 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.836 | deleterious | N | 0.499929248 | None | None | N |
| A/Q | 0.9896 | likely_pathogenic | 0.9856 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/R | 0.9926 | likely_pathogenic | 0.9893 | pathogenic | -1.494 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| A/S | 0.4242 | ambiguous | 0.3817 | ambiguous | -2.154 | Highly Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.499422269 | None | None | N |
| A/T | 0.5396 | ambiguous | 0.4765 | ambiguous | -1.841 | Destabilizing | 1.0 | D | 0.815 | deleterious | N | 0.487812474 | None | None | N |
| A/V | 0.5535 | ambiguous | 0.5198 | ambiguous | -0.337 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.4806987 | None | None | N |
| A/W | 0.997 | likely_pathogenic | 0.996 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/Y | 0.9869 | likely_pathogenic | 0.9835 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.893 | 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.