Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22918 | 68977;68978;68979 | chr2:178577674;178577673;178577672 | chr2:179442401;179442400;179442399 |
| N2AB | 21277 | 64054;64055;64056 | chr2:178577674;178577673;178577672 | chr2:179442401;179442400;179442399 |
| N2A | 20350 | 61273;61274;61275 | chr2:178577674;178577673;178577672 | chr2:179442401;179442400;179442399 |
| N2B | 13853 | 41782;41783;41784 | chr2:178577674;178577673;178577672 | chr2:179442401;179442400;179442399 |
| Novex-1 | 13978 | 42157;42158;42159 | chr2:178577674;178577673;178577672 | chr2:179442401;179442400;179442399 |
| Novex-2 | 14045 | 42358;42359;42360 | chr2:178577674;178577673;178577672 | chr2:179442401;179442400;179442399 |
| 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/E | rs1194010406  |
-2.607 | 1.0 | D | 0.834 | 0.622 | 0.850045053 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| A/E | rs1194010406 |
-2.607 | 1.0 | D | 0.834 | 0.622 | 0.850045053 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/E | rs1194010406 |
-2.607 | 1.0 | D | 0.834 | 0.622 | 0.850045053 | gnomAD-4.0.0 | 1.8598E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54334E-06 | 0 | 0 |
| A/S | rs909868420 |
-2.283 | 1.0 | D | 0.622 | 0.636 | 0.513901218509 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 0 | 1.69972E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs909868420 |
-2.283 | 1.0 | D | 0.622 | 0.636 | 0.513901218509 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31027E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | rs909868420 |
-2.283 | 1.0 | D | 0.622 | 0.636 | 0.513901218509 | gnomAD-4.0.0 | 8.97385E-06 | None | None | None | None | N | None | 0 | 1.18688E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs1194010406 |
-0.807 | 1.0 | D | 0.695 | 0.627 | 0.74474950851 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| A/V | rs1194010406 |
-0.807 | 1.0 | D | 0.695 | 0.627 | 0.74474950851 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs1194010406 |
-0.807 | 1.0 | D | 0.695 | 0.627 | 0.74474950851 | gnomAD-4.0.0 | 3.71961E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08669E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8045 | likely_pathogenic | 0.8206 | pathogenic | -1.666 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| A/D | 0.9971 | likely_pathogenic | 0.9976 | pathogenic | -2.92 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| A/E | 0.9937 | likely_pathogenic | 0.9942 | pathogenic | -2.67 | Highly Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.584322042 | None | None | N |
| A/F | 0.9837 | likely_pathogenic | 0.9879 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| A/G | 0.4191 | ambiguous | 0.4612 | ambiguous | -2.237 | Highly Destabilizing | 1.0 | D | 0.634 | neutral | D | 0.560595473 | None | None | N |
| A/H | 0.9959 | likely_pathogenic | 0.9965 | pathogenic | -2.385 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| A/I | 0.9407 | likely_pathogenic | 0.9529 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/K | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -1.56 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/L | 0.8724 | likely_pathogenic | 0.8846 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/M | 0.9321 | likely_pathogenic | 0.9385 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/N | 0.9888 | likely_pathogenic | 0.9906 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/P | 0.9915 | likely_pathogenic | 0.9928 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.573219226 | None | None | N |
| A/Q | 0.985 | likely_pathogenic | 0.9847 | pathogenic | -1.746 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/R | 0.9919 | likely_pathogenic | 0.9923 | pathogenic | -1.654 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/S | 0.3691 | ambiguous | 0.3535 | ambiguous | -2.429 | Highly Destabilizing | 1.0 | D | 0.622 | neutral | D | 0.530423669 | None | None | N |
| A/T | 0.6234 | likely_pathogenic | 0.6342 | pathogenic | -2.055 | Highly Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.580519699 | None | None | N |
| A/V | 0.7244 | likely_pathogenic | 0.7605 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.550364803 | None | None | N |
| A/W | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -1.661 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/Y | 0.9925 | likely_pathogenic | 0.9943 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.864 | 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.