Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18799 | 56620;56621;56622 | chr2:178599398;178599397;178599396 | chr2:179464125;179464124;179464123 |
| N2AB | 17158 | 51697;51698;51699 | chr2:178599398;178599397;178599396 | chr2:179464125;179464124;179464123 |
| N2A | 16231 | 48916;48917;48918 | chr2:178599398;178599397;178599396 | chr2:179464125;179464124;179464123 |
| N2B | 9734 | 29425;29426;29427 | chr2:178599398;178599397;178599396 | chr2:179464125;179464124;179464123 |
| Novex-1 | 9859 | 29800;29801;29802 | chr2:178599398;178599397;178599396 | chr2:179464125;179464124;179464123 |
| Novex-2 | 9926 | 30001;30002;30003 | chr2:178599398;178599397;178599396 | chr2:179464125;179464124;179464123 |
| 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/T | rs757022353  |
-0.961 | 0.805 | N | 0.625 | 0.179 | 0.294206760003 | gnomAD-2.1.1 | 4.92E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.11995E-04 | None | 0 | None | 0 | 8.7E-06 | 0 |
| A/T | rs757022353 |
-0.961 | 0.805 | N | 0.625 | 0.179 | 0.294206760003 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.82072E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs757022353 |
-0.961 | 0.805 | N | 0.625 | 0.179 | 0.294206760003 | gnomAD-4.0.0 | 1.0833E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.71309E-04 | None | 0 | 0 | 4.30806E-06 | 0 | 0 |
| A/V | rs753746652 |
-0.589 | 0.892 | N | 0.675 | 0.3 | 0.45563089846 | gnomAD-2.1.1 | 4.7E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.52E-05 | None | 0 | 0 | 0 |
| A/V | rs753746652 |
-0.589 | 0.892 | N | 0.675 | 0.3 | 0.45563089846 | gnomAD-4.0.0 | 3.42313E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.02252E-06 | 1.63457E-05 | 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 | 0.4781 | ambiguous | 0.5125 | ambiguous | -1.142 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| A/D | 0.5864 | likely_pathogenic | 0.688 | pathogenic | -1.961 | Destabilizing | 0.975 | D | 0.72 | prob.delet. | None | None | None | None | N |
| A/E | 0.4609 | ambiguous | 0.552 | ambiguous | -2.057 | Highly Destabilizing | 0.967 | D | 0.705 | prob.neutral | N | 0.496103374 | None | None | N |
| A/F | 0.582 | likely_pathogenic | 0.6536 | pathogenic | -1.383 | Destabilizing | 0.987 | D | 0.758 | deleterious | None | None | None | None | N |
| A/G | 0.1638 | likely_benign | 0.1912 | benign | -1.034 | Destabilizing | 0.025 | N | 0.301 | neutral | N | 0.481867428 | None | None | N |
| A/H | 0.6468 | likely_pathogenic | 0.7053 | pathogenic | -0.993 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | None | None | None | None | N |
| A/I | 0.4263 | ambiguous | 0.4874 | ambiguous | -0.665 | Destabilizing | 0.987 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/K | 0.5349 | ambiguous | 0.5995 | pathogenic | -1.129 | Destabilizing | 0.975 | D | 0.705 | prob.neutral | None | None | None | None | N |
| A/L | 0.3661 | ambiguous | 0.4411 | ambiguous | -0.665 | Destabilizing | 0.975 | D | 0.674 | neutral | None | None | None | None | N |
| A/M | 0.3533 | ambiguous | 0.4234 | ambiguous | -0.464 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | None | None | None | None | N |
| A/N | 0.4424 | ambiguous | 0.5026 | ambiguous | -0.982 | Destabilizing | 0.975 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/P | 0.4209 | ambiguous | 0.4978 | ambiguous | -0.705 | Destabilizing | 0.983 | D | 0.738 | prob.delet. | N | 0.501645267 | None | None | N |
| A/Q | 0.4693 | ambiguous | 0.5188 | ambiguous | -1.339 | Destabilizing | 0.975 | D | 0.746 | deleterious | None | None | None | None | N |
| A/R | 0.4866 | ambiguous | 0.5643 | pathogenic | -0.586 | Destabilizing | 0.975 | D | 0.736 | prob.delet. | None | None | None | None | N |
| A/S | 0.103 | likely_benign | 0.1055 | benign | -1.157 | Destabilizing | 0.204 | N | 0.385 | neutral | N | 0.484672872 | None | None | N |
| A/T | 0.1433 | likely_benign | 0.1733 | benign | -1.191 | Destabilizing | 0.805 | D | 0.625 | neutral | N | 0.46584860299999997 | None | None | N |
| A/V | 0.221 | likely_benign | 0.2644 | benign | -0.705 | Destabilizing | 0.892 | D | 0.675 | neutral | N | 0.495135033 | None | None | N |
| A/W | 0.8643 | likely_pathogenic | 0.901 | pathogenic | -1.571 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/Y | 0.6889 | likely_pathogenic | 0.7419 | pathogenic | -1.203 | Destabilizing | 0.996 | D | 0.755 | 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.