Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18044 | 54355;54356;54357 | chr2:178605047;178605046;178605045 | chr2:179469774;179469773;179469772 |
| N2AB | 16403 | 49432;49433;49434 | chr2:178605047;178605046;178605045 | chr2:179469774;179469773;179469772 |
| N2A | 15476 | 46651;46652;46653 | chr2:178605047;178605046;178605045 | chr2:179469774;179469773;179469772 |
| N2B | 8979 | 27160;27161;27162 | chr2:178605047;178605046;178605045 | chr2:179469774;179469773;179469772 |
| Novex-1 | 9104 | 27535;27536;27537 | chr2:178605047;178605046;178605045 | chr2:179469774;179469773;179469772 |
| Novex-2 | 9171 | 27736;27737;27738 | chr2:178605047;178605046;178605045 | chr2:179469774;179469773;179469772 |
| 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/A | rs397517616  |
None | 0.999 | N | 0.552 | 0.402 | 0.240491677333 | gnomAD-4.0.0 | 1.59573E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86666E-06 | 0 | 0 |
| T/I | rs1434797561 |
0.155 | 1.0 | N | 0.771 | 0.438 | 0.416328079214 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.28E-05 | None | 0 | 0 | 0 |
| T/I | rs1434797561 |
0.155 | 1.0 | N | 0.771 | 0.438 | 0.416328079214 | gnomAD-4.0.0 | 2.74026E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.48545E-05 | 1.65893E-05 |
| T/P | rs397517616 |
-0.603 | 1.0 | N | 0.773 | 0.508 | 0.50466331119 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/P | rs397517616 |
-0.603 | 1.0 | N | 0.773 | 0.508 | 0.50466331119 | gnomAD-4.0.0 | 3.19145E-06 | None | None | None | None | N | None | 0 | 4.58106E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1507 | likely_benign | 0.1607 | benign | -1.192 | Destabilizing | 0.999 | D | 0.552 | neutral | N | 0.468888979 | None | None | N |
| T/C | 0.4793 | ambiguous | 0.508 | ambiguous | -1.087 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| T/D | 0.8635 | likely_pathogenic | 0.882 | pathogenic | -1.804 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| T/E | 0.6734 | likely_pathogenic | 0.701 | pathogenic | -1.632 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| T/F | 0.4446 | ambiguous | 0.4991 | ambiguous | -1.147 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| T/G | 0.4821 | ambiguous | 0.5128 | ambiguous | -1.54 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/H | 0.4561 | ambiguous | 0.4787 | ambiguous | -1.757 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| T/I | 0.2349 | likely_benign | 0.3041 | benign | -0.295 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.499194034 | None | None | N |
| T/K | 0.355 | ambiguous | 0.4092 | ambiguous | -0.477 | Destabilizing | 1.0 | D | 0.756 | deleterious | N | 0.463195948 | None | None | N |
| T/L | 0.1859 | likely_benign | 0.2173 | benign | -0.295 | Destabilizing | 0.999 | D | 0.651 | neutral | None | None | None | None | N |
| T/M | 0.1076 | likely_benign | 0.1146 | benign | -0.31 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| T/N | 0.3472 | ambiguous | 0.3681 | ambiguous | -1.141 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| T/P | 0.9244 | likely_pathogenic | 0.9304 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.504389927 | None | None | N |
| T/Q | 0.3686 | ambiguous | 0.3796 | ambiguous | -1.041 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| T/R | 0.3003 | likely_benign | 0.3234 | benign | -0.63 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.497153806 | None | None | N |
| T/S | 0.2107 | likely_benign | 0.2106 | benign | -1.296 | Destabilizing | 0.999 | D | 0.537 | neutral | N | 0.494998935 | None | None | N |
| T/V | 0.1644 | likely_benign | 0.2032 | benign | -0.566 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | N |
| T/W | 0.7957 | likely_pathogenic | 0.8088 | pathogenic | -1.301 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| T/Y | 0.4973 | ambiguous | 0.5316 | ambiguous | -0.89 | Destabilizing | 1.0 | D | 0.825 | 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.