Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31271 | 94036;94037;94038 | chr2:178547815;178547814;178547813 | chr2:179412542;179412541;179412540 |
| N2AB | 29630 | 89113;89114;89115 | chr2:178547815;178547814;178547813 | chr2:179412542;179412541;179412540 |
| N2A | 28703 | 86332;86333;86334 | chr2:178547815;178547814;178547813 | chr2:179412542;179412541;179412540 |
| N2B | 22206 | 66841;66842;66843 | chr2:178547815;178547814;178547813 | chr2:179412542;179412541;179412540 |
| Novex-1 | 22331 | 67216;67217;67218 | chr2:178547815;178547814;178547813 | chr2:179412542;179412541;179412540 |
| Novex-2 | 22398 | 67417;67418;67419 | chr2:178547815;178547814;178547813 | chr2:179412542;179412541;179412540 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/N | rs1220633240  |
-1.318 | 1.0 | N | 0.72 | 0.357 | 0.254761474806 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/N | rs1220633240 |
-1.318 | 1.0 | N | 0.72 | 0.357 | 0.254761474806 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 1.44844E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs1220633240 |
-1.318 | 1.0 | N | 0.72 | 0.357 | 0.254761474806 | gnomAD-4.0.0 | 1.02487E-05 | None | None | None | None | N | None | 1.01506E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39275E-06 | 0 | 2.84414E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.147 | likely_benign | 0.1424 | benign | -1.106 | Destabilizing | 0.767 | D | 0.489 | neutral | N | 0.453013453 | None | None | N |
| T/C | 0.566 | likely_pathogenic | 0.5987 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| T/D | 0.9666 | likely_pathogenic | 0.9791 | pathogenic | -2.373 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| T/E | 0.9636 | likely_pathogenic | 0.9742 | pathogenic | -2.086 | Highly Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| T/F | 0.9104 | likely_pathogenic | 0.9388 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| T/G | 0.5934 | likely_pathogenic | 0.6618 | pathogenic | -1.554 | Destabilizing | 0.997 | D | 0.719 | prob.delet. | None | None | None | None | N |
| T/H | 0.9169 | likely_pathogenic | 0.9418 | pathogenic | -1.786 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/I | 0.6807 | likely_pathogenic | 0.7596 | pathogenic | 0.102 | Stabilizing | 0.999 | D | 0.754 | deleterious | N | 0.471643549 | None | None | N |
| T/K | 0.9611 | likely_pathogenic | 0.974 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| T/L | 0.4154 | ambiguous | 0.4403 | ambiguous | 0.102 | Stabilizing | 0.997 | D | 0.684 | prob.neutral | None | None | None | None | N |
| T/M | 0.2907 | likely_benign | 0.3276 | benign | -0.164 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| T/N | 0.7447 | likely_pathogenic | 0.816 | pathogenic | -1.618 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.461554691 | None | None | N |
| T/P | 0.9458 | likely_pathogenic | 0.9636 | pathogenic | -0.271 | Destabilizing | 0.999 | D | 0.783 | deleterious | N | 0.472657507 | None | None | N |
| T/Q | 0.9024 | likely_pathogenic | 0.9279 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/R | 0.9482 | likely_pathogenic | 0.9631 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| T/S | 0.244 | likely_benign | 0.258 | benign | -1.688 | Destabilizing | 0.992 | D | 0.613 | neutral | N | 0.425557493 | None | None | N |
| T/V | 0.4086 | ambiguous | 0.4486 | ambiguous | -0.271 | Destabilizing | 0.997 | D | 0.611 | neutral | None | None | None | None | N |
| T/W | 0.9839 | likely_pathogenic | 0.9905 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| T/Y | 0.9356 | likely_pathogenic | 0.9573 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.805 | 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.