Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26838 | 80737;80738;80739 | chr2:178565620;178565619;178565618 | chr2:179430347;179430346;179430345 |
| N2AB | 25197 | 75814;75815;75816 | chr2:178565620;178565619;178565618 | chr2:179430347;179430346;179430345 |
| N2A | 24270 | 73033;73034;73035 | chr2:178565620;178565619;178565618 | chr2:179430347;179430346;179430345 |
| N2B | 17773 | 53542;53543;53544 | chr2:178565620;178565619;178565618 | chr2:179430347;179430346;179430345 |
| Novex-1 | 17898 | 53917;53918;53919 | chr2:178565620;178565619;178565618 | chr2:179430347;179430346;179430345 |
| Novex-2 | 17965 | 54118;54119;54120 | chr2:178565620;178565619;178565618 | chr2:179430347;179430346;179430345 |
| 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/V | rs74365721  |
None | 1.0 | N | 0.604 | 0.254 | 0.454987352986 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs74365721 |
None | 1.0 | N | 0.604 | 0.254 | 0.454987352986 | gnomAD-4.0.0 | 1.31543E-05 | None | None | None | None | I | None | 4.82812E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3644 | ambiguous | 0.393 | ambiguous | -0.952 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
| A/D | 0.7587 | likely_pathogenic | 0.7493 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | I |
| A/E | 0.6617 | likely_pathogenic | 0.6539 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.473512059 | None | None | I |
| A/F | 0.4065 | ambiguous | 0.4096 | ambiguous | -0.852 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| A/G | 0.2172 | likely_benign | 0.2116 | benign | -1.017 | Destabilizing | 0.03 | N | 0.334 | neutral | N | 0.486025241 | None | None | I |
| A/H | 0.6631 | likely_pathogenic | 0.6739 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | I |
| A/I | 0.2545 | likely_benign | 0.252 | benign | -0.224 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | I |
| A/K | 0.7854 | likely_pathogenic | 0.7842 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | I |
| A/L | 0.244 | likely_benign | 0.2489 | benign | -0.224 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | I |
| A/M | 0.2263 | likely_benign | 0.2275 | benign | -0.317 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | I |
| A/N | 0.5824 | likely_pathogenic | 0.5783 | pathogenic | -0.787 | Destabilizing | 0.996 | D | 0.661 | neutral | None | None | None | None | I |
| A/P | 0.9644 | likely_pathogenic | 0.9642 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.646 | neutral | N | 0.485032949 | None | None | I |
| A/Q | 0.6571 | likely_pathogenic | 0.6638 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| A/R | 0.7148 | likely_pathogenic | 0.7152 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | I |
| A/S | 0.1593 | likely_benign | 0.157 | benign | -1.2 | Destabilizing | 0.947 | D | 0.508 | neutral | N | 0.488276112 | None | None | I |
| A/T | 0.0965 | likely_benign | 0.0943 | benign | -1.118 | Destabilizing | 0.997 | D | 0.605 | neutral | N | 0.457953205 | None | None | I |
| A/V | 0.123 | likely_benign | 0.1249 | benign | -0.361 | Destabilizing | 1.0 | D | 0.604 | neutral | N | 0.447327993 | None | None | I |
| A/W | 0.8497 | likely_pathogenic | 0.864 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| A/Y | 0.5765 | likely_pathogenic | 0.59 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
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.