Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9595 | 29008;29009;29010 | chr2:178707784;178707783;178707782 | chr2:179572511;179572510;179572509 |
| N2AB | 9278 | 28057;28058;28059 | chr2:178707784;178707783;178707782 | chr2:179572511;179572510;179572509 |
| N2A | 8351 | 25276;25277;25278 | chr2:178707784;178707783;178707782 | chr2:179572511;179572510;179572509 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Q | rs773200956  |
0.261 | 0.175 | None | 0.315 | 0.188 | 0.18274738541 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| H/R | None | None | 0.042 | None | 0.299 | 0.233 | 0.18274738541 | gnomAD-4.0.0 | 1.60302E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.88582E-06 | 0 | 0 |
| H/Y | rs558999754 |
1.114 | 0.568 | None | 0.355 | 0.269 | 0.32306181527 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Y | rs558999754 |
1.114 | 0.568 | None | 0.355 | 0.269 | 0.32306181527 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | rs558999754 |
1.114 | 0.568 | None | 0.355 | 0.269 | 0.32306181527 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| H/Y | rs558999754 |
1.114 | 0.568 | None | 0.355 | 0.269 | 0.32306181527 | gnomAD-4.0.0 | 6.56401E-06 | None | None | None | None | N | None | 0 | 6.53766E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.1469 | likely_benign | 0.1321 | benign | -0.399 | Destabilizing | 0.025 | N | 0.297 | neutral | None | None | None | None | N |
| H/C | 0.1636 | likely_benign | 0.1436 | benign | 0.343 | Stabilizing | 0.958 | D | 0.385 | neutral | None | None | None | None | N |
| H/D | 0.1827 | likely_benign | 0.1567 | benign | -0.001 | Destabilizing | 0.081 | N | 0.371 | neutral | None | None | None | None | N |
| H/E | 0.2336 | likely_benign | 0.1973 | benign | 0.07 | Stabilizing | 0.104 | N | 0.249 | neutral | None | None | None | None | N |
| H/F | 0.2682 | likely_benign | 0.2327 | benign | 0.601 | Stabilizing | 0.859 | D | 0.463 | neutral | None | None | None | None | N |
| H/G | 0.2015 | likely_benign | 0.1714 | benign | -0.735 | Destabilizing | 0.104 | N | 0.352 | neutral | None | None | None | None | N |
| H/I | 0.2027 | likely_benign | 0.1798 | benign | 0.5 | Stabilizing | 0.364 | N | 0.497 | neutral | None | None | None | None | N |
| H/K | 0.1572 | likely_benign | 0.1609 | benign | -0.125 | Destabilizing | 0.002 | N | 0.191 | neutral | None | None | None | None | N |
| H/L | 0.0896 | likely_benign | 0.0816 | benign | 0.5 | Stabilizing | 0.081 | N | 0.429 | neutral | None | None | None | None | N |
| H/M | 0.3427 | ambiguous | 0.3222 | benign | 0.339 | Stabilizing | 0.859 | D | 0.403 | neutral | None | None | None | None | N |
| H/N | 0.0824 | likely_benign | 0.0786 | benign | -0.159 | Destabilizing | 0.151 | N | 0.323 | neutral | None | None | None | None | N |
| H/P | 0.0669 | likely_benign | 0.064 | benign | 0.223 | Stabilizing | None | N | 0.233 | neutral | None | None | None | None | N |
| H/Q | 0.1238 | likely_benign | 0.1086 | benign | -0.004 | Destabilizing | 0.175 | N | 0.315 | neutral | None | None | None | None | N |
| H/R | 0.0913 | likely_benign | 0.081 | benign | -0.556 | Destabilizing | 0.042 | N | 0.299 | neutral | None | None | None | None | N |
| H/S | 0.1407 | likely_benign | 0.1288 | benign | -0.242 | Destabilizing | 0.104 | N | 0.348 | neutral | None | None | None | None | N |
| H/T | 0.1626 | likely_benign | 0.1444 | benign | -0.066 | Destabilizing | 0.104 | N | 0.387 | neutral | None | None | None | None | N |
| H/V | 0.1639 | likely_benign | 0.1503 | benign | 0.223 | Stabilizing | 0.22 | N | 0.459 | neutral | None | None | None | None | N |
| H/W | 0.4322 | ambiguous | 0.3807 | ambiguous | 0.85 | Stabilizing | 0.958 | D | 0.403 | neutral | None | None | None | None | N |
| H/Y | 0.1005 | likely_benign | 0.091 | benign | 1.0 | Stabilizing | 0.568 | D | 0.355 | 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.