Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31244 | 93955;93956;93957 | chr2:178547896;178547895;178547894 | chr2:179412623;179412622;179412621 |
| N2AB | 29603 | 89032;89033;89034 | chr2:178547896;178547895;178547894 | chr2:179412623;179412622;179412621 |
| N2A | 28676 | 86251;86252;86253 | chr2:178547896;178547895;178547894 | chr2:179412623;179412622;179412621 |
| N2B | 22179 | 66760;66761;66762 | chr2:178547896;178547895;178547894 | chr2:179412623;179412622;179412621 |
| Novex-1 | 22304 | 67135;67136;67137 | chr2:178547896;178547895;178547894 | chr2:179412623;179412622;179412621 |
| Novex-2 | 22371 | 67336;67337;67338 | chr2:178547896;178547895;178547894 | chr2:179412623;179412622;179412621 |
| 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/G | None | None | 0.324 | N | 0.391 | 0.252 | 0.359357374593 | gnomAD-4.0.0 | 6.84191E-07 | None | None | None | None | N | None | 0 | 2.23664E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | None | None | 0.193 | D | 0.427 | 0.037 | 0.215869574891 | gnomAD-4.0.0 | 1.59115E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85789E-06 | 0 | 0 |
| A/T | rs753663596  |
-0.893 | 0.001 | N | 0.219 | 0.044 | 0.18274738541 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| A/T | rs753663596 |
-0.893 | 0.001 | N | 0.219 | 0.044 | 0.18274738541 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs753663596 |
-0.893 | 0.001 | N | 0.219 | 0.044 | 0.18274738541 | gnomAD-4.0.0 | 3.84317E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.1781E-06 | 0 | 0 |
| A/V | rs763825977 |
-0.385 | 0.001 | N | 0.215 | 0.158 | 0.329282125956 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.55E-05 | 0 |
| A/V | rs763825977 |
-0.385 | 0.001 | N | 0.215 | 0.158 | 0.329282125956 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/V | rs763825977 |
-0.385 | 0.001 | N | 0.215 | 0.158 | 0.329282125956 | gnomAD-4.0.0 | 1.61124E-05 | None | None | None | None | N | None | 0 | 1.6675E-05 | None | 0 | 0 | None | 0 | 0 | 2.11896E-05 | 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 | 0.3401 | ambiguous | 0.3804 | ambiguous | -0.668 | Destabilizing | 0.944 | D | 0.446 | neutral | None | None | None | None | N |
| A/D | 0.2438 | likely_benign | 0.2639 | benign | -0.633 | Destabilizing | 0.627 | D | 0.512 | neutral | N | 0.509987896 | None | None | N |
| A/E | 0.2019 | likely_benign | 0.2065 | benign | -0.79 | Destabilizing | 0.388 | N | 0.422 | neutral | None | None | None | None | N |
| A/F | 0.2119 | likely_benign | 0.2308 | benign | -0.964 | Destabilizing | 0.69 | D | 0.532 | neutral | None | None | None | None | N |
| A/G | 0.138 | likely_benign | 0.1565 | benign | -0.399 | Destabilizing | 0.324 | N | 0.391 | neutral | N | 0.506140896 | None | None | N |
| A/H | 0.3251 | likely_benign | 0.3667 | ambiguous | -0.514 | Destabilizing | 0.01 | N | 0.479 | neutral | None | None | None | None | N |
| A/I | 0.1148 | likely_benign | 0.1292 | benign | -0.377 | Destabilizing | 0.005 | N | 0.287 | neutral | None | None | None | None | N |
| A/K | 0.2963 | likely_benign | 0.3227 | benign | -0.764 | Destabilizing | 0.69 | D | 0.419 | neutral | None | None | None | None | N |
| A/L | 0.0917 | likely_benign | 0.103 | benign | -0.377 | Destabilizing | 0.116 | N | 0.423 | neutral | None | None | None | None | N |
| A/M | 0.1322 | likely_benign | 0.1475 | benign | -0.366 | Destabilizing | 0.69 | D | 0.438 | neutral | None | None | None | None | N |
| A/N | 0.1771 | likely_benign | 0.2031 | benign | -0.335 | Destabilizing | 0.69 | D | 0.528 | neutral | None | None | None | None | N |
| A/P | 0.0933 | likely_benign | 0.1015 | benign | -0.331 | Destabilizing | 0.003 | N | 0.273 | neutral | N | 0.476011396 | None | None | N |
| A/Q | 0.2192 | likely_benign | 0.2388 | benign | -0.636 | Destabilizing | 0.818 | D | 0.447 | neutral | None | None | None | None | N |
| A/R | 0.277 | likely_benign | 0.2978 | benign | -0.277 | Destabilizing | 0.69 | D | 0.448 | neutral | None | None | None | None | N |
| A/S | 0.0839 | likely_benign | 0.0873 | benign | -0.508 | Destabilizing | 0.193 | N | 0.427 | neutral | D | 0.525034707 | None | None | N |
| A/T | 0.0736 | likely_benign | 0.0763 | benign | -0.592 | Destabilizing | 0.001 | N | 0.219 | neutral | N | 0.460503226 | None | None | N |
| A/V | 0.0759 | likely_benign | 0.078 | benign | -0.331 | Destabilizing | 0.001 | N | 0.215 | neutral | N | 0.521514399 | None | None | N |
| A/W | 0.5595 | ambiguous | 0.6076 | pathogenic | -1.117 | Destabilizing | 0.981 | D | 0.603 | neutral | None | None | None | None | N |
| A/Y | 0.3095 | likely_benign | 0.336 | benign | -0.776 | Destabilizing | 0.69 | D | 0.53 | 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.