Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28875 | 86848;86849;86850 | chr2:178559509;178559508;178559507 | chr2:179424236;179424235;179424234 |
| N2AB | 27234 | 81925;81926;81927 | chr2:178559509;178559508;178559507 | chr2:179424236;179424235;179424234 |
| N2A | 26307 | 79144;79145;79146 | chr2:178559509;178559508;178559507 | chr2:179424236;179424235;179424234 |
| N2B | 19810 | 59653;59654;59655 | chr2:178559509;178559508;178559507 | chr2:179424236;179424235;179424234 |
| Novex-1 | 19935 | 60028;60029;60030 | chr2:178559509;178559508;178559507 | chr2:179424236;179424235;179424234 |
| Novex-2 | 20002 | 60229;60230;60231 | chr2:178559509;178559508;178559507 | chr2:179424236;179424235;179424234 |
| 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/E | rs1702816828  |
None | 0.822 | N | 0.709 | 0.261 | 0.549796516352 | gnomAD-4.0.0 | 6.84237E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65662E-05 |
| A/G | None | None | 0.006 | N | 0.383 | 0.117 | 0.238096912614 | gnomAD-4.0.0 | 6.84237E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9951E-07 | 0 | 0 |
| A/T | rs762472705 |
-1.168 | 0.698 | N | 0.704 | 0.162 | 0.32306181527 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 6.46E-05 | 1.73853E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 1.65782E-04 |
| A/T | rs762472705 |
-1.168 | 0.698 | N | 0.704 | 0.162 | 0.32306181527 | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 2.41E-05 | 6.55136E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs762472705 |
-1.168 | 0.698 | N | 0.704 | 0.162 | 0.32306181527 | gnomAD-4.0.0 | 2.69042E-05 | None | None | None | None | N | None | 3.38192E-05 | 2.88116E-04 | None | 0 | 0 | None | 0 | 0 | 4.78654E-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 | 0.459 | ambiguous | 0.4639 | ambiguous | -0.956 | Destabilizing | 0.998 | D | 0.713 | prob.delet. | None | None | None | None | N |
| A/D | 0.5949 | likely_pathogenic | 0.5378 | ambiguous | -1.323 | Destabilizing | 0.86 | D | 0.729 | prob.delet. | None | None | None | None | N |
| A/E | 0.6807 | likely_pathogenic | 0.6013 | pathogenic | -1.361 | Destabilizing | 0.822 | D | 0.709 | prob.delet. | N | 0.50568565 | None | None | N |
| A/F | 0.4598 | ambiguous | 0.4088 | ambiguous | -1.165 | Destabilizing | 0.978 | D | 0.748 | deleterious | None | None | None | None | N |
| A/G | 0.2147 | likely_benign | 0.2102 | benign | -1.253 | Destabilizing | 0.006 | N | 0.383 | neutral | N | 0.456734123 | None | None | N |
| A/H | 0.6873 | likely_pathogenic | 0.6404 | pathogenic | -1.376 | Destabilizing | 0.998 | D | 0.748 | deleterious | None | None | None | None | N |
| A/I | 0.484 | ambiguous | 0.4153 | ambiguous | -0.486 | Destabilizing | 0.978 | D | 0.744 | deleterious | None | None | None | None | N |
| A/K | 0.8624 | likely_pathogenic | 0.8113 | pathogenic | -1.179 | Destabilizing | 0.86 | D | 0.715 | prob.delet. | None | None | None | None | N |
| A/L | 0.302 | likely_benign | 0.2636 | benign | -0.486 | Destabilizing | 0.86 | D | 0.713 | prob.delet. | None | None | None | None | N |
| A/M | 0.3262 | likely_benign | 0.2894 | benign | -0.349 | Destabilizing | 0.998 | D | 0.718 | prob.delet. | None | None | None | None | N |
| A/N | 0.4699 | ambiguous | 0.4212 | ambiguous | -0.906 | Destabilizing | 0.956 | D | 0.737 | prob.delet. | None | None | None | None | N |
| A/P | 0.9778 | likely_pathogenic | 0.9671 | pathogenic | -0.618 | Destabilizing | 0.97 | D | 0.731 | prob.delet. | N | 0.489272457 | None | None | N |
| A/Q | 0.6232 | likely_pathogenic | 0.5662 | pathogenic | -1.1 | Destabilizing | 0.956 | D | 0.735 | prob.delet. | None | None | None | None | N |
| A/R | 0.8169 | likely_pathogenic | 0.7536 | pathogenic | -0.8 | Destabilizing | 0.956 | D | 0.736 | prob.delet. | None | None | None | None | N |
| A/S | 0.0822 | likely_benign | 0.0852 | benign | -1.259 | Destabilizing | 0.025 | N | 0.386 | neutral | N | 0.41604508 | None | None | N |
| A/T | 0.1557 | likely_benign | 0.1284 | benign | -1.207 | Destabilizing | 0.698 | D | 0.704 | prob.neutral | N | 0.489044116 | None | None | N |
| A/V | 0.2287 | likely_benign | 0.1931 | benign | -0.618 | Destabilizing | 0.822 | D | 0.73 | prob.delet. | N | 0.514555849 | None | None | N |
| A/W | 0.9068 | likely_pathogenic | 0.8846 | pathogenic | -1.479 | Destabilizing | 0.998 | D | 0.766 | deleterious | None | None | None | None | N |
| A/Y | 0.6374 | likely_pathogenic | 0.6086 | pathogenic | -1.09 | Destabilizing | 0.993 | D | 0.748 | 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.