Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32113 | 96562;96563;96564 | chr2:178543636;178543635;178543634 | chr2:179408363;179408362;179408361 |
| N2AB | 30472 | 91639;91640;91641 | chr2:178543636;178543635;178543634 | chr2:179408363;179408362;179408361 |
| N2A | 29545 | 88858;88859;88860 | chr2:178543636;178543635;178543634 | chr2:179408363;179408362;179408361 |
| N2B | 23048 | 69367;69368;69369 | chr2:178543636;178543635;178543634 | chr2:179408363;179408362;179408361 |
| Novex-1 | 23173 | 69742;69743;69744 | chr2:178543636;178543635;178543634 | chr2:179408363;179408362;179408361 |
| Novex-2 | 23240 | 69943;69944;69945 | chr2:178543636;178543635;178543634 | chr2:179408363;179408362;179408361 |
| 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 | rs1224317674  |
0.054 | None | N | 0.187 | 0.122 | 0.139678290688 | gnomAD-2.1.1 | 4.2E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.66E-05 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs1224317674 |
0.054 | None | N | 0.187 | 0.122 | 0.139678290688 | gnomAD-4.0.0 | 1.62871E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78614E-05 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs1377494437 |
-0.208 | None | N | 0.286 | 0.098 | 0.112648838833 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 9.19118E-04 |
| K/T | rs1377494437 |
-0.208 | None | N | 0.286 | 0.098 | 0.112648838833 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 0 | 0 | 0 |
| K/T | rs1377494437 |
-0.208 | None | N | 0.286 | 0.098 | 0.112648838833 | gnomAD-4.0.0 | 6.57125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.16456E-03 | 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 | 0.1714 | likely_benign | 0.1702 | benign | -0.183 | Destabilizing | 0.014 | N | 0.454 | neutral | None | None | None | None | N |
| K/C | 0.3266 | likely_benign | 0.3161 | benign | -0.293 | Destabilizing | 0.65 | D | 0.553 | neutral | None | None | None | None | N |
| K/D | 0.4024 | ambiguous | 0.377 | ambiguous | 0.123 | Stabilizing | 0.033 | N | 0.517 | neutral | None | None | None | None | N |
| K/E | 0.1465 | likely_benign | 0.1431 | benign | 0.18 | Stabilizing | 0.003 | N | 0.503 | neutral | N | 0.446293416 | None | None | N |
| K/F | 0.4743 | ambiguous | 0.4539 | ambiguous | -0.07 | Destabilizing | 0.164 | N | 0.568 | neutral | None | None | None | None | N |
| K/G | 0.2677 | likely_benign | 0.245 | benign | -0.48 | Destabilizing | 0.014 | N | 0.475 | neutral | None | None | None | None | N |
| K/H | 0.147 | likely_benign | 0.1528 | benign | -0.774 | Destabilizing | 0.17 | N | 0.591 | neutral | None | None | None | None | N |
| K/I | 0.1945 | likely_benign | 0.1818 | benign | 0.548 | Stabilizing | 0.003 | N | 0.603 | neutral | N | 0.501474696 | None | None | N |
| K/L | 0.1914 | likely_benign | 0.186 | benign | 0.548 | Stabilizing | 0.001 | N | 0.523 | neutral | None | None | None | None | N |
| K/M | 0.14 | likely_benign | 0.1338 | benign | 0.323 | Stabilizing | 0.056 | N | 0.593 | neutral | None | None | None | None | N |
| K/N | 0.2541 | likely_benign | 0.2369 | benign | -0.02 | Destabilizing | None | N | 0.187 | neutral | N | 0.516212075 | None | None | N |
| K/P | 0.8056 | likely_pathogenic | 0.7552 | pathogenic | 0.335 | Stabilizing | 0.195 | N | 0.627 | neutral | None | None | None | None | N |
| K/Q | 0.0884 | likely_benign | 0.0945 | benign | -0.144 | Destabilizing | 0.006 | N | 0.523 | neutral | N | 0.467687409 | None | None | N |
| K/R | 0.0658 | likely_benign | 0.0659 | benign | -0.297 | Destabilizing | None | N | 0.155 | neutral | N | 0.444349189 | None | None | N |
| K/S | 0.2041 | likely_benign | 0.1893 | benign | -0.602 | Destabilizing | None | N | 0.208 | neutral | None | None | None | None | N |
| K/T | 0.0888 | likely_benign | 0.0887 | benign | -0.364 | Destabilizing | None | N | 0.286 | neutral | N | 0.434862915 | None | None | N |
| K/V | 0.1674 | likely_benign | 0.1588 | benign | 0.335 | Stabilizing | 0.001 | N | 0.561 | neutral | None | None | None | None | N |
| K/W | 0.4428 | ambiguous | 0.4173 | ambiguous | -0.002 | Destabilizing | 0.894 | D | 0.601 | neutral | None | None | None | None | N |
| K/Y | 0.3711 | ambiguous | 0.3559 | ambiguous | 0.305 | Stabilizing | 0.022 | N | 0.559 | neutral | 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.