Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6097 | 18514;18515;18516 | chr2:178730111;178730110;178730109 | chr2:179594838;179594837;179594836 |
| N2AB | 5780 | 17563;17564;17565 | chr2:178730111;178730110;178730109 | chr2:179594838;179594837;179594836 |
| N2A | 4853 | 14782;14783;14784 | chr2:178730111;178730110;178730109 | chr2:179594838;179594837;179594836 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | None | None | 0.338 | N | 0.601 | 0.318 | 0.176091768786 | gnomAD-4.0.0 | 6.8493E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65876E-05 |
| A/T | rs780063658  |
-1.011 | 0.003 | N | 0.309 | 0.231 | 0.215109475489 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| A/T | rs780063658 |
-1.011 | 0.003 | N | 0.309 | 0.231 | 0.215109475489 | gnomAD-4.0.0 | 2.10184E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.46447E-05 | 0 |
| A/V | rs758663081 |
-0.247 | 0.007 | N | 0.43 | 0.183 | 0.211220785272 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs758663081 |
-0.247 | 0.007 | N | 0.43 | 0.183 | 0.211220785272 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs758663081 |
-0.247 | 0.007 | N | 0.43 | 0.183 | 0.211220785272 | gnomAD-4.0.0 | 3.72194E-06 | None | None | None | None | N | None | 6.68467E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.4823E-07 | 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 | 0.537 | ambiguous | 0.5272 | ambiguous | -1.063 | Destabilizing | 0.973 | D | 0.671 | neutral | None | None | None | None | N |
| A/D | 0.7536 | likely_pathogenic | 0.7322 | pathogenic | -0.619 | Destabilizing | 0.782 | D | 0.781 | deleterious | D | 0.554206826 | None | None | N |
| A/E | 0.6792 | likely_pathogenic | 0.6597 | pathogenic | -0.568 | Destabilizing | 0.826 | D | 0.779 | deleterious | None | None | None | None | N |
| A/F | 0.5433 | ambiguous | 0.5625 | ambiguous | -0.805 | Destabilizing | 0.826 | D | 0.792 | deleterious | None | None | None | None | N |
| A/G | 0.239 | likely_benign | 0.2362 | benign | -1.181 | Destabilizing | 0.338 | N | 0.601 | neutral | N | 0.498488482 | None | None | N |
| A/H | 0.8482 | likely_pathogenic | 0.8413 | pathogenic | -1.355 | Destabilizing | 0.973 | D | 0.754 | deleterious | None | None | None | None | N |
| A/I | 0.3154 | likely_benign | 0.333 | benign | -0.003 | Destabilizing | 0.404 | N | 0.755 | deleterious | None | None | None | None | N |
| A/K | 0.8882 | likely_pathogenic | 0.8856 | pathogenic | -0.809 | Destabilizing | 0.704 | D | 0.778 | deleterious | None | None | None | None | N |
| A/L | 0.3058 | likely_benign | 0.3094 | benign | -0.003 | Destabilizing | 0.404 | N | 0.673 | neutral | None | None | None | None | N |
| A/M | 0.2804 | likely_benign | 0.2748 | benign | -0.208 | Destabilizing | 0.973 | D | 0.761 | deleterious | None | None | None | None | N |
| A/N | 0.5984 | likely_pathogenic | 0.5764 | pathogenic | -0.69 | Destabilizing | 0.704 | D | 0.787 | deleterious | None | None | None | None | N |
| A/P | 0.9222 | likely_pathogenic | 0.9309 | pathogenic | -0.236 | Destabilizing | 0.879 | D | 0.775 | deleterious | D | 0.554206826 | None | None | N |
| A/Q | 0.7217 | likely_pathogenic | 0.7121 | pathogenic | -0.689 | Destabilizing | 0.826 | D | 0.775 | deleterious | None | None | None | None | N |
| A/R | 0.8381 | likely_pathogenic | 0.8363 | pathogenic | -0.765 | Destabilizing | 0.826 | D | 0.787 | deleterious | None | None | None | None | N |
| A/S | 0.1551 | likely_benign | 0.1486 | benign | -1.247 | Destabilizing | 0.013 | N | 0.427 | neutral | N | 0.511869023 | None | None | N |
| A/T | 0.091 | likely_benign | 0.0842 | benign | -1.062 | Destabilizing | 0.003 | N | 0.309 | neutral | N | 0.505855089 | None | None | N |
| A/V | 0.1373 | likely_benign | 0.1489 | benign | -0.236 | Destabilizing | 0.007 | N | 0.43 | neutral | N | 0.488721431 | None | None | N |
| A/W | 0.9131 | likely_pathogenic | 0.9117 | pathogenic | -1.197 | Destabilizing | 0.991 | D | 0.799 | deleterious | None | None | None | None | N |
| A/Y | 0.7482 | likely_pathogenic | 0.7387 | pathogenic | -0.715 | Destabilizing | 0.906 | D | 0.791 | 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.