Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5287 | 16084;16085;16086 | chr2:178733434;178733433;178733432 | chr2:179598161;179598160;179598159 |
| N2AB | 4970 | 15133;15134;15135 | chr2:178733434;178733433;178733432 | chr2:179598161;179598160;179598159 |
| N2A | 4043 | 12352;12353;12354 | chr2:178733434;178733433;178733432 | chr2:179598161;179598160;179598159 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/M | rs148551876  |
0.138 | 1.0 | D | 0.53 | 0.414 | None | gnomAD-2.1.1 | 3.14355E-04 | None | None | None | None | N | None | 3.05911E-03 | 0 | None | 0 | 0 | None | 2.28788E-04 | None | 0 | 4.69E-05 | 1.4041E-04 |
| T/M | rs148551876 |
0.138 | 1.0 | D | 0.53 | 0.414 | None | gnomAD-3.1.2 | 7.10069E-04 | None | None | None | None | N | None | 2.53525E-03 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 2.07383E-04 | 0 |
| T/M | rs148551876 |
0.138 | 1.0 | D | 0.53 | 0.414 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 3.8E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/M | rs148551876 |
0.138 | 1.0 | D | 0.53 | 0.414 | None | gnomAD-4.0.0 | 1.62353E-04 | None | None | None | None | N | None | 2.62632E-03 | 3.33289E-05 | None | 0 | 0 | None | 0 | 0 | 2.62762E-05 | 2.41562E-04 | 1.60046E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2278 | likely_benign | 0.187 | benign | -0.282 | Destabilizing | 0.835 | D | 0.461 | neutral | N | 0.505160246 | None | None | N |
| T/C | 0.7538 | likely_pathogenic | 0.7367 | pathogenic | -0.312 | Destabilizing | 1.0 | D | 0.545 | neutral | None | None | None | None | N |
| T/D | 0.634 | likely_pathogenic | 0.6212 | pathogenic | 0.153 | Stabilizing | 0.97 | D | 0.516 | neutral | None | None | None | None | N |
| T/E | 0.6098 | likely_pathogenic | 0.5417 | ambiguous | 0.083 | Stabilizing | 0.97 | D | 0.533 | neutral | None | None | None | None | N |
| T/F | 0.3761 | ambiguous | 0.3102 | benign | -0.749 | Destabilizing | 0.999 | D | 0.674 | neutral | None | None | None | None | N |
| T/G | 0.525 | ambiguous | 0.5288 | ambiguous | -0.411 | Destabilizing | 0.97 | D | 0.607 | neutral | None | None | None | None | N |
| T/H | 0.4179 | ambiguous | 0.4068 | ambiguous | -0.555 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| T/I | 0.4125 | ambiguous | 0.2953 | benign | -0.062 | Destabilizing | 0.996 | D | 0.493 | neutral | None | None | None | None | N |
| T/K | 0.4573 | ambiguous | 0.3616 | ambiguous | -0.35 | Destabilizing | 0.984 | D | 0.522 | neutral | D | 0.52751297 | None | None | N |
| T/L | 0.2281 | likely_benign | 0.1758 | benign | -0.062 | Destabilizing | 0.985 | D | 0.516 | neutral | None | None | None | None | N |
| T/M | 0.1453 | likely_benign | 0.1969 | benign | -0.077 | Destabilizing | 1.0 | D | 0.53 | neutral | D | 0.621174738 | None | None | N |
| T/N | 0.2085 | likely_benign | 0.1771 | benign | -0.122 | Destabilizing | 0.97 | D | 0.506 | neutral | None | None | None | None | N |
| T/P | 0.6651 | likely_pathogenic | 0.619 | pathogenic | -0.106 | Destabilizing | 0.994 | D | 0.495 | neutral | D | 0.645731944 | None | None | N |
| T/Q | 0.4481 | ambiguous | 0.3794 | ambiguous | -0.327 | Destabilizing | 0.996 | D | 0.511 | neutral | None | None | None | None | N |
| T/R | 0.4249 | ambiguous | 0.3395 | benign | -0.029 | Destabilizing | 0.998 | D | 0.513 | neutral | D | 0.560630158 | None | None | N |
| T/S | 0.1345 | likely_benign | 0.1446 | benign | -0.335 | Destabilizing | 0.287 | N | 0.231 | neutral | N | 0.489395234 | None | None | N |
| T/V | 0.3547 | ambiguous | 0.2548 | benign | -0.106 | Destabilizing | 0.985 | D | 0.475 | neutral | None | None | None | None | N |
| T/W | 0.7524 | likely_pathogenic | 0.7377 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/Y | 0.4115 | ambiguous | 0.3638 | ambiguous | -0.489 | Destabilizing | 0.999 | D | 0.677 | 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.