Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6609 | 20050;20051;20052 | chr2:178727753;178727752;178727751 | chr2:179592480;179592479;179592478 |
| N2AB | 6292 | 19099;19100;19101 | chr2:178727753;178727752;178727751 | chr2:179592480;179592479;179592478 |
| N2A | 5365 | 16318;16319;16320 | chr2:178727753;178727752;178727751 | chr2:179592480;179592479;179592478 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs781410754  |
-0.762 | 1.0 | D | 0.713 | 0.464 | 0.190952846119 | gnomAD-2.1.1 | 6.84E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.90571E-04 | None | 0 | None | 0 | 0 | 1.65837E-04 |
| K/N | rs781410754 |
-0.762 | 1.0 | D | 0.713 | 0.464 | 0.190952846119 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 7.72798E-04 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs781410754 |
-0.762 | 1.0 | D | 0.713 | 0.464 | 0.190952846119 | gnomAD-4.0.0 | 1.3688E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79942E-06 | 0 | 0 |
| K/R | rs756188488 |
-0.515 | 1.0 | N | 0.601 | 0.304 | 0.249502417897 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 1.15922E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs756188488 |
-0.515 | 1.0 | N | 0.601 | 0.304 | 0.249502417897 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.31079E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs756188488 |
-0.515 | 1.0 | N | 0.601 | 0.304 | 0.249502417897 | gnomAD-4.0.0 | 7.69059E-06 | None | None | None | None | N | None | 0 | 1.01716E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.8198 | likely_pathogenic | 0.8516 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| K/C | 0.8546 | likely_pathogenic | 0.9055 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| K/D | 0.9719 | likely_pathogenic | 0.9784 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| K/E | 0.6079 | likely_pathogenic | 0.6445 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.585 | neutral | D | 0.534223017 | None | None | N |
| K/F | 0.934 | likely_pathogenic | 0.9474 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| K/G | 0.9062 | likely_pathogenic | 0.9323 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| K/H | 0.5192 | ambiguous | 0.5659 | pathogenic | -1.707 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| K/I | 0.6906 | likely_pathogenic | 0.7151 | pathogenic | 0.117 | Stabilizing | 0.999 | D | 0.861 | deleterious | None | None | None | None | N |
| K/L | 0.6513 | likely_pathogenic | 0.6796 | pathogenic | 0.117 | Stabilizing | 0.999 | D | 0.779 | deleterious | None | None | None | None | N |
| K/M | 0.4987 | ambiguous | 0.5306 | ambiguous | -0.032 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.522613222 | None | None | N |
| K/N | 0.9102 | likely_pathogenic | 0.9217 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.522613222 | None | None | N |
| K/P | 0.989 | likely_pathogenic | 0.9904 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| K/Q | 0.2627 | likely_benign | 0.2896 | benign | -0.824 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | N | 0.510749938 | None | None | N |
| K/R | 0.0912 | likely_benign | 0.1009 | benign | -0.713 | Destabilizing | 1.0 | D | 0.601 | neutral | N | 0.49898339 | None | None | N |
| K/S | 0.8759 | likely_pathogenic | 0.8982 | pathogenic | -1.622 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | N |
| K/T | 0.7124 | likely_pathogenic | 0.7473 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.507217992 | None | None | N |
| K/V | 0.6755 | likely_pathogenic | 0.7166 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| K/W | 0.8915 | likely_pathogenic | 0.9119 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| K/Y | 0.8553 | likely_pathogenic | 0.872 | pathogenic | -0.154 | Destabilizing | 1.0 | D | 0.833 | 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.