Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35465 | 106618;106619;106620 | chr2:178530098;178530097;178530096 | chr2:179394825;179394824;179394823 |
| N2AB | 33824 | 101695;101696;101697 | chr2:178530098;178530097;178530096 | chr2:179394825;179394824;179394823 |
| N2A | 32897 | 98914;98915;98916 | chr2:178530098;178530097;178530096 | chr2:179394825;179394824;179394823 |
| N2B | 26400 | 79423;79424;79425 | chr2:178530098;178530097;178530096 | chr2:179394825;179394824;179394823 |
| Novex-1 | 26525 | 79798;79799;79800 | chr2:178530098;178530097;178530096 | chr2:179394825;179394824;179394823 |
| Novex-2 | 26592 | 79999;80000;80001 | chr2:178530098;178530097;178530096 | chr2:179394825;179394824;179394823 |
| 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/T | rs1408549737  |
None | 0.999 | N | 0.713 | 0.369 | 0.272639205421 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| K/T | rs1408549737 |
None | 0.999 | N | 0.713 | 0.369 | 0.272639205421 | gnomAD-4.0.0 | 2.59457E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.81299E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4528 | ambiguous | 0.4446 | ambiguous | -0.639 | Destabilizing | 0.998 | D | 0.506 | neutral | None | None | None | None | N |
| K/C | 0.8231 | likely_pathogenic | 0.8006 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| K/D | 0.5804 | likely_pathogenic | 0.5475 | ambiguous | 0.201 | Stabilizing | 0.999 | D | 0.709 | prob.delet. | None | None | None | None | N |
| K/E | 0.273 | likely_benign | 0.2662 | benign | 0.323 | Stabilizing | 0.997 | D | 0.405 | neutral | N | 0.496825732 | None | None | N |
| K/F | 0.7935 | likely_pathogenic | 0.7878 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| K/G | 0.547 | ambiguous | 0.5212 | ambiguous | -0.991 | Destabilizing | 0.998 | D | 0.661 | neutral | None | None | None | None | N |
| K/H | 0.4127 | ambiguous | 0.4102 | ambiguous | -1.198 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/I | 0.3518 | ambiguous | 0.3485 | ambiguous | 0.268 | Stabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.490707837 | None | None | N |
| K/L | 0.4116 | ambiguous | 0.4134 | ambiguous | 0.268 | Stabilizing | 0.998 | D | 0.661 | neutral | None | None | None | None | N |
| K/M | 0.2913 | likely_benign | 0.2864 | benign | 0.064 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/N | 0.3594 | ambiguous | 0.3383 | benign | -0.358 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | N | 0.477719897 | None | None | N |
| K/P | 0.7288 | likely_pathogenic | 0.6923 | pathogenic | -0.005 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| K/Q | 0.2119 | likely_benign | 0.22 | benign | -0.365 | Destabilizing | 0.999 | D | 0.661 | neutral | N | 0.505791932 | None | None | N |
| K/R | 0.096 | likely_benign | 0.0971 | benign | -0.424 | Destabilizing | 0.997 | D | 0.421 | neutral | N | 0.35958043 | None | None | N |
| K/S | 0.4618 | ambiguous | 0.4421 | ambiguous | -1.076 | Destabilizing | 0.998 | D | 0.503 | neutral | None | None | None | None | N |
| K/T | 0.235 | likely_benign | 0.2249 | benign | -0.734 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | N | 0.486859455 | None | None | N |
| K/V | 0.4245 | ambiguous | 0.4279 | ambiguous | -0.005 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| K/W | 0.8283 | likely_pathogenic | 0.8175 | pathogenic | -0.249 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| K/Y | 0.6544 | likely_pathogenic | 0.6321 | pathogenic | 0.039 | Stabilizing | 0.999 | D | 0.691 | prob.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.