Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18355 | 55288;55289;55290 | chr2:178602339;178602338;178602337 | chr2:179467066;179467065;179467064 |
| N2AB | 16714 | 50365;50366;50367 | chr2:178602339;178602338;178602337 | chr2:179467066;179467065;179467064 |
| N2A | 15787 | 47584;47585;47586 | chr2:178602339;178602338;178602337 | chr2:179467066;179467065;179467064 |
| N2B | 9290 | 28093;28094;28095 | chr2:178602339;178602338;178602337 | chr2:179467066;179467065;179467064 |
| Novex-1 | 9415 | 28468;28469;28470 | chr2:178602339;178602338;178602337 | chr2:179467066;179467065;179467064 |
| Novex-2 | 9482 | 28669;28670;28671 | chr2:178602339;178602338;178602337 | chr2:179467066;179467065;179467064 |
| 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/P | rs2053671258  |
None | 0.998 | D | 0.535 | 0.415 | 0.423002944196 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/P | rs2053671258 |
None | 0.998 | D | 0.535 | 0.415 | 0.423002944196 | gnomAD-4.0.0 | 5.07543E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.02503E-06 | 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 | 0.4453 | ambiguous | 0.5038 | ambiguous | -0.751 | Destabilizing | 1.0 | D | 0.445 | neutral | None | None | None | None | I |
| A/D | 0.542 | ambiguous | 0.458 | ambiguous | -0.586 | Destabilizing | 0.998 | D | 0.699 | prob.neutral | N | 0.502412734 | None | None | I |
| A/E | 0.3833 | ambiguous | 0.332 | benign | -0.75 | Destabilizing | 0.999 | D | 0.501 | neutral | None | None | None | None | I |
| A/F | 0.3165 | likely_benign | 0.3416 | ambiguous | -0.919 | Destabilizing | 0.996 | D | 0.708 | prob.delet. | None | None | None | None | I |
| A/G | 0.1979 | likely_benign | 0.1889 | benign | -0.284 | Destabilizing | 0.993 | D | 0.377 | neutral | N | 0.480078517 | None | None | I |
| A/H | 0.5947 | likely_pathogenic | 0.5689 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| A/I | 0.1945 | likely_benign | 0.2073 | benign | -0.371 | Destabilizing | 0.304 | N | 0.285 | neutral | None | None | None | None | I |
| A/K | 0.5538 | ambiguous | 0.4854 | ambiguous | -0.6 | Destabilizing | 0.999 | D | 0.501 | neutral | None | None | None | None | I |
| A/L | 0.2511 | likely_benign | 0.2516 | benign | -0.371 | Destabilizing | 0.871 | D | 0.482 | neutral | None | None | None | None | I |
| A/M | 0.2413 | likely_benign | 0.2505 | benign | -0.4 | Destabilizing | 0.996 | D | 0.533 | neutral | None | None | None | None | I |
| A/N | 0.4148 | ambiguous | 0.3769 | ambiguous | -0.265 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | I |
| A/P | 0.8227 | likely_pathogenic | 0.7808 | pathogenic | -0.3 | Destabilizing | 0.998 | D | 0.535 | neutral | D | 0.530685207 | None | None | I |
| A/Q | 0.4549 | ambiguous | 0.4212 | ambiguous | -0.583 | Destabilizing | 0.999 | D | 0.531 | neutral | None | None | None | None | I |
| A/R | 0.4923 | ambiguous | 0.4519 | ambiguous | -0.087 | Destabilizing | 0.999 | D | 0.529 | neutral | None | None | None | None | I |
| A/S | 0.1449 | likely_benign | 0.1408 | benign | -0.441 | Destabilizing | 0.98 | D | 0.429 | neutral | N | 0.476675157 | None | None | I |
| A/T | 0.1532 | likely_benign | 0.1481 | benign | -0.532 | Destabilizing | 0.961 | D | 0.383 | neutral | N | 0.491816897 | None | None | I |
| A/V | 0.097 | likely_benign | 0.1028 | benign | -0.3 | Destabilizing | 0.248 | N | 0.207 | neutral | N | 0.495892731 | None | None | I |
| A/W | 0.7658 | likely_pathogenic | 0.7773 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| A/Y | 0.5029 | ambiguous | 0.5039 | ambiguous | -0.691 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | 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.