Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24153 | 72682;72683;72684 | chr2:178573675;178573674;178573673 | chr2:179438402;179438401;179438400 |
| N2AB | 22512 | 67759;67760;67761 | chr2:178573675;178573674;178573673 | chr2:179438402;179438401;179438400 |
| N2A | 21585 | 64978;64979;64980 | chr2:178573675;178573674;178573673 | chr2:179438402;179438401;179438400 |
| N2B | 15088 | 45487;45488;45489 | chr2:178573675;178573674;178573673 | chr2:179438402;179438401;179438400 |
| Novex-1 | 15213 | 45862;45863;45864 | chr2:178573675;178573674;178573673 | chr2:179438402;179438401;179438400 |
| Novex-2 | 15280 | 46063;46064;46065 | chr2:178573675;178573674;178573673 | chr2:179438402;179438401;179438400 |
| 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 | None | None | 0.046 | N | 0.46 | 0.147 | 0.163833314356 | gnomAD-4.0.0 | 7.33455E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.46735E-05 | 0 |
| A/P | None | None | 0.991 | N | 0.781 | 0.398 | 0.482357354261 | gnomAD-4.0.0 | 7.33281E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.38174E-07 | 0 | 0 |
| A/T | None | None | 0.885 | N | 0.705 | 0.243 | 0.28722502521 | gnomAD-4.0.0 | 7.33281E-07 | None | None | None | None | I | None | 3.306E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs767092290  |
-0.579 | 0.939 | N | 0.742 | 0.349 | 0.46123363591 | gnomAD-2.1.1 | 5.66E-06 | None | None | None | None | I | None | 0 | 4.77E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs767092290 |
-0.579 | 0.939 | N | 0.742 | 0.349 | 0.46123363591 | gnomAD-4.0.0 | 7.33455E-07 | None | None | None | None | I | None | 0 | 3.42912E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3998 | ambiguous | 0.4696 | ambiguous | -0.988 | Destabilizing | 0.999 | D | 0.795 | deleterious | None | None | None | None | I |
| A/D | 0.4948 | ambiguous | 0.553 | ambiguous | -0.941 | Destabilizing | 0.982 | D | 0.798 | deleterious | N | 0.511958261 | None | None | I |
| A/E | 0.5875 | likely_pathogenic | 0.5946 | pathogenic | -0.995 | Destabilizing | 0.986 | D | 0.773 | deleterious | None | None | None | None | I |
| A/F | 0.6188 | likely_pathogenic | 0.6283 | pathogenic | -1.194 | Destabilizing | 0.998 | D | 0.819 | deleterious | None | None | None | None | I |
| A/G | 0.1599 | likely_benign | 0.2058 | benign | -1.195 | Destabilizing | 0.046 | N | 0.46 | neutral | N | 0.490673338 | None | None | I |
| A/H | 0.713 | likely_pathogenic | 0.7353 | pathogenic | -1.272 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | I |
| A/I | 0.6779 | likely_pathogenic | 0.6589 | pathogenic | -0.506 | Destabilizing | 0.993 | D | 0.779 | deleterious | None | None | None | None | I |
| A/K | 0.8768 | likely_pathogenic | 0.8874 | pathogenic | -1.061 | Destabilizing | 0.986 | D | 0.775 | deleterious | None | None | None | None | I |
| A/L | 0.4449 | ambiguous | 0.4354 | ambiguous | -0.506 | Destabilizing | 0.986 | D | 0.753 | deleterious | None | None | None | None | I |
| A/M | 0.4461 | ambiguous | 0.4448 | ambiguous | -0.388 | Destabilizing | 0.999 | D | 0.788 | deleterious | None | None | None | None | I |
| A/N | 0.4277 | ambiguous | 0.4392 | ambiguous | -0.746 | Destabilizing | 0.986 | D | 0.805 | deleterious | None | None | None | None | I |
| A/P | 0.9829 | likely_pathogenic | 0.9832 | pathogenic | -0.619 | Destabilizing | 0.991 | D | 0.781 | deleterious | N | 0.521366363 | None | None | I |
| A/Q | 0.6203 | likely_pathogenic | 0.6298 | pathogenic | -0.945 | Destabilizing | 0.993 | D | 0.779 | deleterious | None | None | None | None | I |
| A/R | 0.8071 | likely_pathogenic | 0.8225 | pathogenic | -0.698 | Destabilizing | 0.986 | D | 0.775 | deleterious | None | None | None | None | I |
| A/S | 0.0802 | likely_benign | 0.0856 | benign | -1.147 | Destabilizing | 0.322 | N | 0.513 | neutral | N | 0.397189961 | None | None | I |
| A/T | 0.1727 | likely_benign | 0.1801 | benign | -1.102 | Destabilizing | 0.885 | D | 0.705 | prob.neutral | N | 0.515441284 | None | None | I |
| A/V | 0.3423 | ambiguous | 0.3351 | benign | -0.619 | Destabilizing | 0.939 | D | 0.742 | deleterious | N | 0.477547303 | None | None | I |
| A/W | 0.9145 | likely_pathogenic | 0.919 | pathogenic | -1.441 | Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | I |
| A/Y | 0.7247 | likely_pathogenic | 0.7479 | pathogenic | -1.065 | Destabilizing | 0.998 | D | 0.819 | deleterious | None | None | None | None | I |
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.