Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20383 | 61372;61373;61374 | chr2:178590578;178590577;178590576 | chr2:179455305;179455304;179455303 |
| N2AB | 18742 | 56449;56450;56451 | chr2:178590578;178590577;178590576 | chr2:179455305;179455304;179455303 |
| N2A | 17815 | 53668;53669;53670 | chr2:178590578;178590577;178590576 | chr2:179455305;179455304;179455303 |
| N2B | 11318 | 34177;34178;34179 | chr2:178590578;178590577;178590576 | chr2:179455305;179455304;179455303 |
| Novex-1 | 11443 | 34552;34553;34554 | chr2:178590578;178590577;178590576 | chr2:179455305;179455304;179455303 |
| Novex-2 | 11510 | 34753;34754;34755 | chr2:178590578;178590577;178590576 | chr2:179455305;179455304;179455303 |
| 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/E | None | None | 0.986 | N | 0.445 | 0.189 | 0.435699915968 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| K/N | rs727504968  |
-1.086 | 0.996 | N | 0.414 | 0.185 | 0.294918367191 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 1.29938E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs727504968 |
-1.086 | 0.996 | N | 0.414 | 0.185 | 0.294918367191 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs727504968 |
-1.086 | 0.996 | N | 0.414 | 0.185 | 0.294918367191 | gnomAD-4.0.0 | 3.10091E-06 | None | None | None | None | N | None | 6.68145E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/R | rs1168586982 |
-0.307 | 0.959 | N | 0.44 | 0.144 | 0.335910606209 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 5.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs1168586982 |
-0.307 | 0.959 | N | 0.44 | 0.144 | 0.335910606209 | gnomAD-4.0.0 | 4.78205E-06 | None | None | None | None | N | None | 5.67859E-05 | 4.58379E-05 | 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 | 0.6451 | likely_pathogenic | 0.6021 | pathogenic | -0.55 | Destabilizing | 0.863 | D | 0.427 | neutral | None | None | None | None | N |
| K/C | 0.6789 | likely_pathogenic | 0.6434 | pathogenic | -0.643 | Destabilizing | 0.999 | D | 0.484 | neutral | None | None | None | None | N |
| K/D | 0.942 | likely_pathogenic | 0.9378 | pathogenic | 0.06 | Stabilizing | 0.997 | D | 0.399 | neutral | None | None | None | None | N |
| K/E | 0.6631 | likely_pathogenic | 0.6494 | pathogenic | 0.134 | Stabilizing | 0.986 | D | 0.445 | neutral | N | 0.495468656 | None | None | N |
| K/F | 0.8518 | likely_pathogenic | 0.8383 | pathogenic | -0.574 | Destabilizing | 0.884 | D | 0.46 | neutral | None | None | None | None | N |
| K/G | 0.8084 | likely_pathogenic | 0.7966 | pathogenic | -0.856 | Destabilizing | 0.969 | D | 0.428 | neutral | None | None | None | None | N |
| K/H | 0.3697 | ambiguous | 0.3556 | ambiguous | -1.335 | Destabilizing | 0.982 | D | 0.413 | neutral | None | None | None | None | N |
| K/I | 0.4983 | ambiguous | 0.4489 | ambiguous | 0.217 | Stabilizing | 0.884 | D | 0.47 | neutral | None | None | None | None | N |
| K/L | 0.6452 | likely_pathogenic | 0.6079 | pathogenic | 0.217 | Stabilizing | 0.759 | D | 0.409 | neutral | None | None | None | None | N |
| K/M | 0.4011 | ambiguous | 0.3779 | ambiguous | 0.222 | Stabilizing | 0.509 | D | 0.34 | neutral | N | 0.477576329 | None | None | N |
| K/N | 0.8063 | likely_pathogenic | 0.7939 | pathogenic | -0.212 | Destabilizing | 0.996 | D | 0.414 | neutral | N | 0.495642015 | None | None | N |
| K/P | 0.9516 | likely_pathogenic | 0.9551 | pathogenic | -0.009 | Destabilizing | 0.997 | D | 0.409 | neutral | None | None | None | None | N |
| K/Q | 0.2671 | likely_benign | 0.2464 | benign | -0.39 | Destabilizing | 0.988 | D | 0.441 | neutral | N | 0.465839182 | None | None | N |
| K/R | 0.0921 | likely_benign | 0.0885 | benign | -0.416 | Destabilizing | 0.959 | D | 0.44 | neutral | N | 0.465839182 | None | None | N |
| K/S | 0.6917 | likely_pathogenic | 0.6592 | pathogenic | -0.926 | Destabilizing | 0.969 | D | 0.412 | neutral | None | None | None | None | N |
| K/T | 0.2378 | likely_benign | 0.2049 | benign | -0.654 | Destabilizing | 0.959 | D | 0.395 | neutral | N | 0.407310954 | None | None | N |
| K/V | 0.4398 | ambiguous | 0.3928 | ambiguous | -0.009 | Destabilizing | 0.884 | D | 0.425 | neutral | None | None | None | None | N |
| K/W | 0.7449 | likely_pathogenic | 0.7119 | pathogenic | -0.422 | Destabilizing | 0.998 | D | 0.481 | neutral | None | None | None | None | N |
| K/Y | 0.5945 | likely_pathogenic | 0.599 | pathogenic | -0.077 | Destabilizing | 0.079 | N | 0.239 | 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.