Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30931 | 93016;93017;93018 | chr2:178548835;178548834;178548833 | chr2:179413562;179413561;179413560 |
| N2AB | 29290 | 88093;88094;88095 | chr2:178548835;178548834;178548833 | chr2:179413562;179413561;179413560 |
| N2A | 28363 | 85312;85313;85314 | chr2:178548835;178548834;178548833 | chr2:179413562;179413561;179413560 |
| N2B | 21866 | 65821;65822;65823 | chr2:178548835;178548834;178548833 | chr2:179413562;179413561;179413560 |
| Novex-1 | 21991 | 66196;66197;66198 | chr2:178548835;178548834;178548833 | chr2:179413562;179413561;179413560 |
| Novex-2 | 22058 | 66397;66398;66399 | chr2:178548835;178548834;178548833 | chr2:179413562;179413561;179413560 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1210776511  |
-0.961 | 0.025 | N | 0.309 | 0.352 | 0.294561560033 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.02648E-04 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs1210776511 |
-0.961 | 0.025 | N | 0.309 | 0.352 | 0.294561560033 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92976E-04 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs1210776511 |
-0.961 | 0.025 | N | 0.309 | 0.352 | 0.294561560033 | gnomAD-4.0.0 | 1.5929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.9068E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.943 | likely_pathogenic | 0.9317 | pathogenic | -2.086 | Highly Destabilizing | 0.916 | D | 0.57 | neutral | None | None | None | None | N |
| F/C | 0.8064 | likely_pathogenic | 0.7754 | pathogenic | -1.344 | Destabilizing | 0.999 | D | 0.673 | neutral | N | 0.512068196 | None | None | N |
| F/D | 0.9831 | likely_pathogenic | 0.9796 | pathogenic | -1.029 | Destabilizing | 0.996 | D | 0.713 | prob.delet. | None | None | None | None | N |
| F/E | 0.9826 | likely_pathogenic | 0.9778 | pathogenic | -0.937 | Destabilizing | 0.987 | D | 0.706 | prob.neutral | None | None | None | None | N |
| F/G | 0.9719 | likely_pathogenic | 0.9652 | pathogenic | -2.403 | Highly Destabilizing | 0.987 | D | 0.699 | prob.neutral | None | None | None | None | N |
| F/H | 0.9173 | likely_pathogenic | 0.9021 | pathogenic | -0.811 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| F/I | 0.5519 | ambiguous | 0.538 | ambiguous | -1.129 | Destabilizing | 0.805 | D | 0.523 | neutral | N | 0.462119379 | None | None | N |
| F/K | 0.9805 | likely_pathogenic | 0.9748 | pathogenic | -1.397 | Destabilizing | 0.987 | D | 0.705 | prob.neutral | None | None | None | None | N |
| F/L | 0.94 | likely_pathogenic | 0.9374 | pathogenic | -1.129 | Destabilizing | 0.025 | N | 0.309 | neutral | N | 0.3776367 | None | None | N |
| F/M | 0.7697 | likely_pathogenic | 0.747 | pathogenic | -1.015 | Destabilizing | 0.975 | D | 0.611 | neutral | None | None | None | None | N |
| F/N | 0.9521 | likely_pathogenic | 0.947 | pathogenic | -1.501 | Destabilizing | 0.996 | D | 0.711 | prob.delet. | None | None | None | None | N |
| F/P | 0.9962 | likely_pathogenic | 0.9938 | pathogenic | -1.443 | Destabilizing | 0.996 | D | 0.71 | prob.delet. | None | None | None | None | N |
| F/Q | 0.954 | likely_pathogenic | 0.9435 | pathogenic | -1.499 | Destabilizing | 0.996 | D | 0.712 | prob.delet. | None | None | None | None | N |
| F/R | 0.951 | likely_pathogenic | 0.9403 | pathogenic | -0.884 | Destabilizing | 0.987 | D | 0.714 | prob.delet. | None | None | None | None | N |
| F/S | 0.9166 | likely_pathogenic | 0.9068 | pathogenic | -2.21 | Highly Destabilizing | 0.983 | D | 0.647 | neutral | N | 0.492789002 | None | None | N |
| F/T | 0.9282 | likely_pathogenic | 0.9096 | pathogenic | -2.01 | Highly Destabilizing | 0.975 | D | 0.632 | neutral | None | None | None | None | N |
| F/V | 0.6164 | likely_pathogenic | 0.5896 | pathogenic | -1.443 | Destabilizing | 0.805 | D | 0.535 | neutral | N | 0.472816375 | None | None | N |
| F/W | 0.7997 | likely_pathogenic | 0.7659 | pathogenic | -0.51 | Destabilizing | 0.999 | D | 0.607 | neutral | None | None | None | None | N |
| F/Y | 0.3803 | ambiguous | 0.3436 | ambiguous | -0.748 | Destabilizing | 0.944 | D | 0.521 | neutral | N | 0.447344714 | 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.