Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23982 | 72169;72170;72171 | chr2:178574188;178574187;178574186 | chr2:179438915;179438914;179438913 |
| N2AB | 22341 | 67246;67247;67248 | chr2:178574188;178574187;178574186 | chr2:179438915;179438914;179438913 |
| N2A | 21414 | 64465;64466;64467 | chr2:178574188;178574187;178574186 | chr2:179438915;179438914;179438913 |
| N2B | 14917 | 44974;44975;44976 | chr2:178574188;178574187;178574186 | chr2:179438915;179438914;179438913 |
| Novex-1 | 15042 | 45349;45350;45351 | chr2:178574188;178574187;178574186 | chr2:179438915;179438914;179438913 |
| Novex-2 | 15109 | 45550;45551;45552 | chr2:178574188;178574187;178574186 | chr2:179438915;179438914;179438913 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs199755820  |
-0.958 | 0.625 | N | 0.452 | 0.247 | 0.117506650769 | gnomAD-2.1.1 | 8.23E-05 | None | None | None | None | N | None | 0 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 2.39789E-04 | 1.17723E-04 | 1.40607E-04 |
| N/D | rs199755820 |
-0.958 | 0.625 | N | 0.452 | 0.247 | 0.117506650769 | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 2.82433E-04 | 0 | 1.17661E-04 | 0 | 0 |
| N/D | rs199755820 |
-0.958 | 0.625 | N | 0.452 | 0.247 | 0.117506650769 | gnomAD-4.0.0 | 1.05367E-04 | None | None | None | None | N | None | 0 | 1.66728E-05 | None | 0 | 0 | None | 3.43664E-04 | 0 | 1.1868E-04 | 0 | 1.12108E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.2195 | likely_benign | 0.2291 | benign | -0.819 | Destabilizing | 0.525 | D | 0.411 | neutral | None | None | None | None | N |
| N/C | 0.1983 | likely_benign | 0.1982 | benign | -0.143 | Destabilizing | 0.998 | D | 0.591 | neutral | None | None | None | None | N |
| N/D | 0.1653 | likely_benign | 0.1767 | benign | -1.164 | Destabilizing | 0.625 | D | 0.452 | neutral | N | 0.479583979 | None | None | N |
| N/E | 0.3383 | likely_benign | 0.3522 | ambiguous | -0.924 | Destabilizing | 0.842 | D | 0.423 | neutral | None | None | None | None | N |
| N/F | 0.6511 | likely_pathogenic | 0.6942 | pathogenic | -0.316 | Destabilizing | 0.974 | D | 0.579 | neutral | None | None | None | None | N |
| N/G | 0.298 | likely_benign | 0.3165 | benign | -1.243 | Destabilizing | 0.688 | D | 0.401 | neutral | None | None | None | None | N |
| N/H | 0.1612 | likely_benign | 0.1728 | benign | -0.67 | Destabilizing | 0.989 | D | 0.467 | neutral | N | 0.462710372 | None | None | N |
| N/I | 0.3467 | ambiguous | 0.3872 | ambiguous | 0.316 | Stabilizing | 0.801 | D | 0.566 | neutral | N | 0.479237262 | None | None | N |
| N/K | 0.3173 | likely_benign | 0.3619 | ambiguous | -0.061 | Destabilizing | 0.801 | D | 0.412 | neutral | N | 0.44196974 | None | None | N |
| N/L | 0.2525 | likely_benign | 0.2732 | benign | 0.316 | Stabilizing | 0.728 | D | 0.507 | neutral | None | None | None | None | N |
| N/M | 0.2701 | likely_benign | 0.2944 | benign | 0.383 | Stabilizing | 0.991 | D | 0.567 | neutral | None | None | None | None | N |
| N/P | 0.386 | ambiguous | 0.3798 | ambiguous | -0.035 | Destabilizing | 0.974 | D | 0.545 | neutral | None | None | None | None | N |
| N/Q | 0.3526 | ambiguous | 0.3817 | ambiguous | -0.573 | Destabilizing | 0.974 | D | 0.44 | neutral | None | None | None | None | N |
| N/R | 0.3612 | ambiguous | 0.4042 | ambiguous | -0.293 | Destabilizing | 0.842 | D | 0.405 | neutral | None | None | None | None | N |
| N/S | 0.1032 | likely_benign | 0.1069 | benign | -1.062 | Destabilizing | 0.454 | N | 0.349 | neutral | N | 0.454570891 | None | None | N |
| N/T | 0.1018 | likely_benign | 0.1037 | benign | -0.619 | Destabilizing | 0.007 | N | 0.217 | neutral | N | 0.300241338 | None | None | N |
| N/V | 0.3069 | likely_benign | 0.3269 | benign | -0.035 | Destabilizing | 0.728 | D | 0.507 | neutral | None | None | None | None | N |
| N/W | 0.7896 | likely_pathogenic | 0.805 | pathogenic | -0.195 | Destabilizing | 0.998 | D | 0.615 | neutral | None | None | None | None | N |
| N/Y | 0.192 | likely_benign | 0.2082 | benign | 0.168 | Stabilizing | 0.989 | D | 0.561 | neutral | N | 0.483451003 | 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.