Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31164 | 93715;93716;93717 | chr2:178548136;178548135;178548134 | chr2:179412863;179412862;179412861 |
| N2AB | 29523 | 88792;88793;88794 | chr2:178548136;178548135;178548134 | chr2:179412863;179412862;179412861 |
| N2A | 28596 | 86011;86012;86013 | chr2:178548136;178548135;178548134 | chr2:179412863;179412862;179412861 |
| N2B | 22099 | 66520;66521;66522 | chr2:178548136;178548135;178548134 | chr2:179412863;179412862;179412861 |
| Novex-1 | 22224 | 66895;66896;66897 | chr2:178548136;178548135;178548134 | chr2:179412863;179412862;179412861 |
| Novex-2 | 22291 | 67096;67097;67098 | chr2:178548136;178548135;178548134 | chr2:179412863;179412862;179412861 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | None | None | 1.0 | N | 0.773 | 0.396 | 0.312001716656 | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85796E-06 | 0 | 0 |
| G/V | rs1303031829  |
0.18 | 1.0 | N | 0.813 | 0.49 | 0.5567728319 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs1303031829 |
0.18 | 1.0 | N | 0.813 | 0.49 | 0.5567728319 | gnomAD-4.0.0 | 1.59107E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1908 | likely_benign | 0.2101 | benign | -0.551 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | N | 0.429129021 | None | None | N |
| G/C | 0.3947 | ambiguous | 0.4536 | ambiguous | -0.688 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.506763085 | None | None | N |
| G/D | 0.611 | likely_pathogenic | 0.619 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.47934441 | None | None | N |
| G/E | 0.6129 | likely_pathogenic | 0.6256 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/F | 0.8233 | likely_pathogenic | 0.8402 | pathogenic | -0.764 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/H | 0.77 | likely_pathogenic | 0.7849 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/I | 0.6714 | likely_pathogenic | 0.6872 | pathogenic | 0.028 | Stabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/K | 0.728 | likely_pathogenic | 0.7329 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/L | 0.721 | likely_pathogenic | 0.7504 | pathogenic | 0.028 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/M | 0.7739 | likely_pathogenic | 0.8001 | pathogenic | -0.024 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| G/N | 0.6422 | likely_pathogenic | 0.6755 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/P | 0.9829 | likely_pathogenic | 0.9808 | pathogenic | -0.121 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/Q | 0.6364 | likely_pathogenic | 0.6489 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/R | 0.6168 | likely_pathogenic | 0.5947 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.510686038 | None | None | N |
| G/S | 0.1916 | likely_benign | 0.2132 | benign | -1.182 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.463334808 | None | None | N |
| G/T | 0.3737 | ambiguous | 0.412 | ambiguous | -1.075 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/V | 0.5245 | ambiguous | 0.5499 | ambiguous | -0.121 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.469090131 | None | None | N |
| G/W | 0.8079 | likely_pathogenic | 0.8018 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| G/Y | 0.7811 | likely_pathogenic | 0.809 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.794 | 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.