Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8915 | 26968;26969;26970 | chr2:178713915;178713914;178713913 | chr2:179578642;179578641;179578640 |
| N2AB | 8598 | 26017;26018;26019 | chr2:178713915;178713914;178713913 | chr2:179578642;179578641;179578640 |
| N2A | 7671 | 23236;23237;23238 | chr2:178713915;178713914;178713913 | chr2:179578642;179578641;179578640 |
| 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 | rs536974988  |
-1.196 | 0.117 | N | 0.635 | 0.208 | 0.260735089382 | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 4.14E-05 | 2.84E-05 | None | 0 | 1.02575E-04 | None | 3.28E-05 | None | 0 | 0 | 1.40845E-04 |
| A/G | rs536974988 |
-1.196 | 0.117 | N | 0.635 | 0.208 | 0.260735089382 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 2.41E-05 | 2.61883E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs536974988 |
-1.196 | 0.117 | N | 0.635 | 0.208 | 0.260735089382 | 1000 genomes | None | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| A/G | rs536974988 |
-1.196 | 0.117 | N | 0.635 | 0.208 | 0.260735089382 | gnomAD-4.0.0 | 2.23147E-05 | None | None | None | None | N | None | 2.66688E-05 | 8.33639E-05 | None | 0 | 8.91703E-05 | None | 0 | 0 | 2.54357E-06 | 1.09912E-05 | 3.36194E-04 |
| A/V | None | None | None | N | 0.148 | 0.096 | 0.33440975612 | gnomAD-4.0.0 | 1.36892E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7995E-06 | 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 | 0.559 | ambiguous | 0.5311 | ambiguous | -1.075 | Destabilizing | 0.824 | D | 0.667 | neutral | None | None | None | None | N |
| A/D | 0.7443 | likely_pathogenic | 0.7614 | pathogenic | -0.637 | Destabilizing | 0.317 | N | 0.745 | deleterious | D | 0.545154698 | None | None | N |
| A/E | 0.6894 | likely_pathogenic | 0.6901 | pathogenic | -0.684 | Destabilizing | 0.38 | N | 0.741 | deleterious | None | None | None | None | N |
| A/F | 0.4687 | ambiguous | 0.4531 | ambiguous | -1.054 | Destabilizing | 0.38 | N | 0.739 | prob.delet. | None | None | None | None | N |
| A/G | 0.2297 | likely_benign | 0.251 | benign | -1.058 | Destabilizing | 0.117 | N | 0.635 | neutral | N | 0.516671514 | None | None | N |
| A/H | 0.81 | likely_pathogenic | 0.8066 | pathogenic | -1.18 | Destabilizing | 0.935 | D | 0.674 | neutral | None | None | None | None | N |
| A/I | 0.2454 | likely_benign | 0.2248 | benign | -0.347 | Destabilizing | 0.001 | N | 0.315 | neutral | None | None | None | None | N |
| A/K | 0.8518 | likely_pathogenic | 0.8436 | pathogenic | -0.955 | Destabilizing | 0.38 | N | 0.741 | deleterious | None | None | None | None | N |
| A/L | 0.2825 | likely_benign | 0.2571 | benign | -0.347 | Destabilizing | 0.035 | N | 0.575 | neutral | None | None | None | None | N |
| A/M | 0.3088 | likely_benign | 0.2939 | benign | -0.375 | Destabilizing | 0.38 | N | 0.712 | prob.delet. | None | None | None | None | N |
| A/N | 0.6335 | likely_pathogenic | 0.6413 | pathogenic | -0.68 | Destabilizing | 0.38 | N | 0.747 | deleterious | None | None | None | None | N |
| A/P | 0.9216 | likely_pathogenic | 0.9167 | pathogenic | -0.465 | Destabilizing | 0.484 | N | 0.735 | prob.delet. | D | 0.545154698 | None | None | N |
| A/Q | 0.7268 | likely_pathogenic | 0.712 | pathogenic | -0.835 | Destabilizing | 0.555 | D | 0.738 | prob.delet. | None | None | None | None | N |
| A/R | 0.7763 | likely_pathogenic | 0.7608 | pathogenic | -0.684 | Destabilizing | 0.38 | N | 0.743 | deleterious | None | None | None | None | N |
| A/S | 0.1272 | likely_benign | 0.1346 | benign | -1.117 | Destabilizing | 0.062 | N | 0.585 | neutral | N | 0.490637669 | None | None | N |
| A/T | 0.1012 | likely_benign | 0.1012 | benign | -1.053 | Destabilizing | None | N | 0.409 | neutral | N | 0.512129698 | None | None | N |
| A/V | 0.1088 | likely_benign | 0.1003 | benign | -0.465 | Destabilizing | None | N | 0.148 | neutral | N | 0.471280367 | None | None | N |
| A/W | 0.9109 | likely_pathogenic | 0.9044 | pathogenic | -1.306 | Destabilizing | 0.935 | D | 0.743 | deleterious | None | None | None | None | N |
| A/Y | 0.705 | likely_pathogenic | 0.6955 | pathogenic | -0.902 | Destabilizing | 0.555 | D | 0.751 | 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.