Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29781 | 89566;89567;89568 | chr2:178553664;178553663;178553662 | chr2:179418391;179418390;179418389 |
| N2AB | 28140 | 84643;84644;84645 | chr2:178553664;178553663;178553662 | chr2:179418391;179418390;179418389 |
| N2A | 27213 | 81862;81863;81864 | chr2:178553664;178553663;178553662 | chr2:179418391;179418390;179418389 |
| N2B | 20716 | 62371;62372;62373 | chr2:178553664;178553663;178553662 | chr2:179418391;179418390;179418389 |
| Novex-1 | 20841 | 62746;62747;62748 | chr2:178553664;178553663;178553662 | chr2:179418391;179418390;179418389 |
| Novex-2 | 20908 | 62947;62948;62949 | chr2:178553664;178553663;178553662 | chr2:179418391;179418390;179418389 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs1385379230  |
-1.247 | 1.0 | D | 0.701 | 0.56 | 0.752714936772 | 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 |
| W/C | rs1385379230 |
-1.247 | 1.0 | D | 0.701 | 0.56 | 0.752714936772 | gnomAD-4.0.0 | 1.59114E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| W/R | rs765435839 |
-1.021 | 1.0 | N | 0.747 | 0.66 | 0.686711031824 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/R | rs765435839 |
-1.021 | 1.0 | N | 0.747 | 0.66 | 0.686711031824 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/R | rs765435839 |
-1.021 | 1.0 | N | 0.747 | 0.66 | 0.686711031824 | gnomAD-4.0.0 | 1.23936E-06 | None | None | None | None | N | None | 2.66994E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/S | None | None | 1.0 | N | 0.747 | 0.496 | 0.827048001732 | gnomAD-4.0.0 | 1.59115E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9664 | likely_pathogenic | 0.9584 | pathogenic | -3.028 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/C | 0.9895 | likely_pathogenic | 0.9861 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.540560255 | None | None | N |
| W/D | 0.9885 | likely_pathogenic | 0.985 | pathogenic | -1.606 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| W/E | 0.9919 | likely_pathogenic | 0.9897 | pathogenic | -1.526 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| W/F | 0.536 | ambiguous | 0.5436 | ambiguous | -1.854 | Destabilizing | 1.0 | D | 0.595 | neutral | None | None | None | None | N |
| W/G | 0.9051 | likely_pathogenic | 0.8794 | pathogenic | -3.227 | Highly Destabilizing | 1.0 | D | 0.636 | neutral | D | 0.528189992 | None | None | N |
| W/H | 0.9842 | likely_pathogenic | 0.9816 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| W/I | 0.9552 | likely_pathogenic | 0.9419 | pathogenic | -2.307 | Highly Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| W/K | 0.9961 | likely_pathogenic | 0.9952 | pathogenic | -1.59 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| W/L | 0.9168 | likely_pathogenic | 0.8914 | pathogenic | -2.307 | Highly Destabilizing | 1.0 | D | 0.636 | neutral | N | 0.506691922 | None | None | N |
| W/M | 0.9587 | likely_pathogenic | 0.9475 | pathogenic | -1.753 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| W/N | 0.9835 | likely_pathogenic | 0.9803 | pathogenic | -1.915 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| W/P | 0.9822 | likely_pathogenic | 0.9786 | pathogenic | -2.564 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9968 | likely_pathogenic | 0.9956 | pathogenic | -1.923 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/R | 0.9959 | likely_pathogenic | 0.9946 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.521949021 | None | None | N |
| W/S | 0.9599 | likely_pathogenic | 0.9491 | pathogenic | -2.391 | Highly Destabilizing | 1.0 | D | 0.747 | deleterious | N | 0.515148165 | None | None | N |
| W/T | 0.9666 | likely_pathogenic | 0.9603 | pathogenic | -2.269 | Highly Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| W/V | 0.9543 | likely_pathogenic | 0.9408 | pathogenic | -2.564 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/Y | 0.7586 | likely_pathogenic | 0.7411 | pathogenic | -1.634 | Destabilizing | 1.0 | D | 0.558 | neutral | 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.