Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16274 | 49045;49046;49047 | chr2:178614694;178614693;178614692 | chr2:179479421;179479420;179479419 |
| N2AB | 14633 | 44122;44123;44124 | chr2:178614694;178614693;178614692 | chr2:179479421;179479420;179479419 |
| N2A | 13706 | 41341;41342;41343 | chr2:178614694;178614693;178614692 | chr2:179479421;179479420;179479419 |
| N2B | 7209 | 21850;21851;21852 | chr2:178614694;178614693;178614692 | chr2:179479421;179479420;179479419 |
| Novex-1 | 7334 | 22225;22226;22227 | chr2:178614694;178614693;178614692 | chr2:179479421;179479420;179479419 |
| Novex-2 | 7401 | 22426;22427;22428 | chr2:178614694;178614693;178614692 | chr2:179479421;179479420;179479419 |
| 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/A | None | None | 0.948 | N | 0.442 | 0.231 | 0.198526703765 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| T/N | rs1576463553  |
None | 0.997 | N | 0.568 | 0.231 | 0.222439326576 | gnomAD-4.0.0 | 1.59486E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.03232E-05 |
| T/P | rs564109979 |
-0.962 | 0.998 | D | 0.599 | 0.529 | 0.265929055128 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/P | rs564109979 |
-0.962 | 0.998 | D | 0.599 | 0.529 | 0.265929055128 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | rs564109979 |
-0.962 | 0.998 | D | 0.599 | 0.529 | 0.265929055128 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/P | rs564109979 |
-0.962 | 0.998 | D | 0.599 | 0.529 | 0.265929055128 | gnomAD-4.0.0 | 6.57635E-06 | None | None | None | None | N | None | 0 | 6.5505E-05 | None | 0 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1315 | likely_benign | 0.1394 | benign | -0.743 | Destabilizing | 0.948 | D | 0.442 | neutral | N | 0.447962099 | None | None | N |
| T/C | 0.5309 | ambiguous | 0.5514 | ambiguous | -0.364 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| T/D | 0.5644 | likely_pathogenic | 0.5396 | ambiguous | 0.163 | Stabilizing | 0.998 | D | 0.545 | neutral | None | None | None | None | N |
| T/E | 0.4265 | ambiguous | 0.4122 | ambiguous | 0.117 | Stabilizing | 0.998 | D | 0.555 | neutral | None | None | None | None | N |
| T/F | 0.6107 | likely_pathogenic | 0.5883 | pathogenic | -1.118 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| T/G | 0.2782 | likely_benign | 0.3015 | benign | -0.922 | Destabilizing | 0.992 | D | 0.505 | neutral | None | None | None | None | N |
| T/H | 0.4641 | ambiguous | 0.4677 | ambiguous | -1.282 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| T/I | 0.6202 | likely_pathogenic | 0.5913 | pathogenic | -0.375 | Destabilizing | 0.998 | D | 0.601 | neutral | N | 0.508182075 | None | None | N |
| T/K | 0.4399 | ambiguous | 0.417 | ambiguous | -0.451 | Destabilizing | 0.998 | D | 0.552 | neutral | None | None | None | None | N |
| T/L | 0.2573 | likely_benign | 0.2527 | benign | -0.375 | Destabilizing | 0.996 | D | 0.513 | neutral | None | None | None | None | N |
| T/M | 0.1495 | likely_benign | 0.1552 | benign | 0.039 | Stabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| T/N | 0.1744 | likely_benign | 0.1733 | benign | -0.271 | Destabilizing | 0.997 | D | 0.568 | neutral | N | 0.447529795 | None | None | N |
| T/P | 0.9198 | likely_pathogenic | 0.9007 | pathogenic | -0.468 | Destabilizing | 0.998 | D | 0.599 | neutral | D | 0.530219969 | None | None | N |
| T/Q | 0.2973 | likely_benign | 0.3111 | benign | -0.525 | Destabilizing | 0.999 | D | 0.608 | neutral | None | None | None | None | N |
| T/R | 0.4571 | ambiguous | 0.4356 | ambiguous | -0.212 | Destabilizing | 0.999 | D | 0.603 | neutral | None | None | None | None | N |
| T/S | 0.1109 | likely_benign | 0.1166 | benign | -0.588 | Destabilizing | 0.775 | D | 0.262 | neutral | N | 0.427043361 | None | None | N |
| T/V | 0.377 | ambiguous | 0.359 | ambiguous | -0.468 | Destabilizing | 0.996 | D | 0.497 | neutral | None | None | None | None | N |
| T/W | 0.8856 | likely_pathogenic | 0.8783 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| T/Y | 0.6086 | likely_pathogenic | 0.5915 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.649 | 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.