Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22148 | 66667;66668;66669 | chr2:178581927;178581926;178581925 | chr2:179446654;179446653;179446652 |
| N2AB | 20507 | 61744;61745;61746 | chr2:178581927;178581926;178581925 | chr2:179446654;179446653;179446652 |
| N2A | 19580 | 58963;58964;58965 | chr2:178581927;178581926;178581925 | chr2:179446654;179446653;179446652 |
| N2B | 13083 | 39472;39473;39474 | chr2:178581927;178581926;178581925 | chr2:179446654;179446653;179446652 |
| Novex-1 | 13208 | 39847;39848;39849 | chr2:178581927;178581926;178581925 | chr2:179446654;179446653;179446652 |
| Novex-2 | 13275 | 40048;40049;40050 | chr2:178581927;178581926;178581925 | chr2:179446654;179446653;179446652 |
| 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/T | rs794727433  |
-0.72 | 0.396 | D | 0.485 | 0.138 | 0.357724736475 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.81025E-04 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs794727433 |
-0.72 | 0.396 | D | 0.485 | 0.138 | 0.357724736475 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93798E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs794727433 |
-0.72 | 0.396 | D | 0.485 | 0.138 | 0.357724736475 | gnomAD-4.0.0 | 9.91907E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.01288E-04 | None | 0 | 0 | 5.08704E-06 | 0 | 1.602E-05 |
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 | 0.3573 | ambiguous | 0.3781 | ambiguous | -0.597 | Destabilizing | 0.892 | D | 0.683 | prob.neutral | None | None | None | None | N |
| A/D | 0.6183 | likely_pathogenic | 0.6133 | pathogenic | -1.399 | Destabilizing | 0.623 | D | 0.793 | deleterious | D | 0.530323096 | None | None | N |
| A/E | 0.4504 | ambiguous | 0.4355 | ambiguous | -1.311 | Destabilizing | 0.687 | D | 0.653 | prob.neutral | None | None | None | None | N |
| A/F | 0.3465 | ambiguous | 0.34 | ambiguous | -0.735 | Destabilizing | 0.519 | D | 0.793 | deleterious | None | None | None | None | N |
| A/G | 0.232 | likely_benign | 0.2411 | benign | -1.231 | Destabilizing | 0.32 | N | 0.469 | neutral | D | 0.529109588 | None | None | N |
| A/H | 0.6165 | likely_pathogenic | 0.6307 | pathogenic | -1.373 | Destabilizing | 0.962 | D | 0.765 | deleterious | None | None | None | None | N |
| A/I | 0.1837 | likely_benign | 0.1774 | benign | 0.014 | Stabilizing | 0.05 | N | 0.48 | neutral | None | None | None | None | N |
| A/K | 0.6703 | likely_pathogenic | 0.6992 | pathogenic | -1.08 | Destabilizing | 0.687 | D | 0.651 | prob.neutral | None | None | None | None | N |
| A/L | 0.2439 | likely_benign | 0.2476 | benign | 0.014 | Stabilizing | 0.134 | N | 0.477 | neutral | None | None | None | None | N |
| A/M | 0.2401 | likely_benign | 0.2334 | benign | 0.019 | Stabilizing | 0.803 | D | 0.686 | prob.delet. | None | None | None | None | N |
| A/N | 0.4471 | ambiguous | 0.4353 | ambiguous | -1.029 | Destabilizing | 0.87 | D | 0.775 | deleterious | None | None | None | None | N |
| A/P | 0.9034 | likely_pathogenic | 0.9323 | pathogenic | -0.239 | Destabilizing | 0.928 | D | 0.688 | prob.delet. | D | 0.530323096 | None | None | N |
| A/Q | 0.4391 | ambiguous | 0.4419 | ambiguous | -1.029 | Destabilizing | 0.87 | D | 0.661 | prob.neutral | None | None | None | None | N |
| A/R | 0.5886 | likely_pathogenic | 0.634 | pathogenic | -0.891 | Destabilizing | 0.687 | D | 0.676 | prob.neutral | None | None | None | None | N |
| A/S | 0.121 | likely_benign | 0.1194 | benign | -1.423 | Destabilizing | 0.371 | N | 0.499 | neutral | D | 0.529282946 | None | None | N |
| A/T | 0.088 | likely_benign | 0.0857 | benign | -1.224 | Destabilizing | 0.396 | N | 0.485 | neutral | D | 0.526509213 | None | None | N |
| A/V | 0.0958 | likely_benign | 0.0918 | benign | -0.239 | Destabilizing | None | N | 0.268 | neutral | N | 0.448395146 | None | None | N |
| A/W | 0.8209 | likely_pathogenic | 0.8381 | pathogenic | -1.282 | Destabilizing | 0.962 | D | 0.75 | deleterious | None | None | None | None | N |
| A/Y | 0.5114 | ambiguous | 0.5335 | ambiguous | -0.751 | Destabilizing | 0.687 | D | 0.777 | deleterious | 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.