Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33209 | 99850;99851;99852 | chr2:178537582;178537581;178537580 | chr2:179402309;179402308;179402307 |
| N2AB | 31568 | 94927;94928;94929 | chr2:178537582;178537581;178537580 | chr2:179402309;179402308;179402307 |
| N2A | 30641 | 92146;92147;92148 | chr2:178537582;178537581;178537580 | chr2:179402309;179402308;179402307 |
| N2B | 24144 | 72655;72656;72657 | chr2:178537582;178537581;178537580 | chr2:179402309;179402308;179402307 |
| Novex-1 | 24269 | 73030;73031;73032 | chr2:178537582;178537581;178537580 | chr2:179402309;179402308;179402307 |
| Novex-2 | 24336 | 73231;73232;73233 | chr2:178537582;178537581;178537580 | chr2:179402309;179402308;179402307 |
| 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/D | None | None | 0.928 | N | 0.471 | 0.267 | 0.701518117412 | 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 |
| A/P | rs1244887390  |
-0.593 | 0.996 | N | 0.423 | 0.385 | 0.557405679382 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66113E-04 |
| A/P | rs1244887390 |
-0.593 | 0.996 | N | 0.423 | 0.385 | 0.557405679382 | gnomAD-4.0.0 | 3.18307E-06 | None | None | None | None | N | None | 0 | 2.28697E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02407E-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 | 0.4698 | ambiguous | 0.5054 | ambiguous | -0.83 | Destabilizing | 0.999 | D | 0.467 | neutral | None | None | None | None | N |
| A/D | 0.3648 | ambiguous | 0.3912 | ambiguous | -0.3 | Destabilizing | 0.928 | D | 0.471 | neutral | N | 0.431183183 | None | None | N |
| A/E | 0.278 | likely_benign | 0.2723 | benign | -0.427 | Destabilizing | 0.923 | D | 0.408 | neutral | None | None | None | None | N |
| A/F | 0.3243 | likely_benign | 0.3454 | ambiguous | -0.914 | Destabilizing | 0.999 | D | 0.537 | neutral | None | None | None | None | N |
| A/G | 0.1073 | likely_benign | 0.1319 | benign | -0.581 | Destabilizing | 0.001 | N | 0.231 | neutral | N | 0.409538475 | None | None | N |
| A/H | 0.4785 | ambiguous | 0.4773 | ambiguous | -0.577 | Destabilizing | 0.998 | D | 0.536 | neutral | None | None | None | None | N |
| A/I | 0.2258 | likely_benign | 0.2567 | benign | -0.375 | Destabilizing | 0.999 | D | 0.447 | neutral | None | None | None | None | N |
| A/K | 0.3901 | ambiguous | 0.3596 | ambiguous | -0.674 | Destabilizing | 0.97 | D | 0.405 | neutral | None | None | None | None | N |
| A/L | 0.1829 | likely_benign | 0.2043 | benign | -0.375 | Destabilizing | 0.992 | D | 0.391 | neutral | None | None | None | None | N |
| A/M | 0.2202 | likely_benign | 0.2392 | benign | -0.387 | Destabilizing | 0.999 | D | 0.445 | neutral | None | None | None | None | N |
| A/N | 0.2481 | likely_benign | 0.2603 | benign | -0.375 | Destabilizing | 0.667 | D | 0.505 | neutral | None | None | None | None | N |
| A/P | 0.1934 | likely_benign | 0.2262 | benign | -0.371 | Destabilizing | 0.996 | D | 0.423 | neutral | N | 0.398033402 | None | None | N |
| A/Q | 0.3056 | likely_benign | 0.2964 | benign | -0.633 | Destabilizing | 0.714 | D | 0.323 | neutral | None | None | None | None | N |
| A/R | 0.3415 | ambiguous | 0.3187 | benign | -0.261 | Destabilizing | 0.985 | D | 0.436 | neutral | None | None | None | None | N |
| A/S | 0.0989 | likely_benign | 0.1017 | benign | -0.681 | Destabilizing | 0.283 | N | 0.427 | neutral | N | 0.413498713 | None | None | N |
| A/T | 0.0869 | likely_benign | 0.0924 | benign | -0.719 | Destabilizing | 0.945 | D | 0.394 | neutral | N | 0.415579012 | None | None | N |
| A/V | 0.1226 | likely_benign | 0.1381 | benign | -0.371 | Destabilizing | 0.973 | D | 0.391 | neutral | N | 0.439341307 | None | None | N |
| A/W | 0.7299 | likely_pathogenic | 0.7484 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.563 | neutral | None | None | None | None | N |
| A/Y | 0.4783 | ambiguous | 0.4994 | ambiguous | -0.697 | Destabilizing | 0.999 | D | 0.537 | 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.