Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28503 | 85732;85733;85734 | chr2:178560625;178560624;178560623 | chr2:179425352;179425351;179425350 |
| N2AB | 26862 | 80809;80810;80811 | chr2:178560625;178560624;178560623 | chr2:179425352;179425351;179425350 |
| N2A | 25935 | 78028;78029;78030 | chr2:178560625;178560624;178560623 | chr2:179425352;179425351;179425350 |
| N2B | 19438 | 58537;58538;58539 | chr2:178560625;178560624;178560623 | chr2:179425352;179425351;179425350 |
| Novex-1 | 19563 | 58912;58913;58914 | chr2:178560625;178560624;178560623 | chr2:179425352;179425351;179425350 |
| Novex-2 | 19630 | 59113;59114;59115 | chr2:178560625;178560624;178560623 | chr2:179425352;179425351;179425350 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs1222429807  |
-0.108 | 0.002 | N | 0.395 | 0.085 | 0.124217242631 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.98E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs1222429807 |
-0.108 | 0.002 | N | 0.395 | 0.085 | 0.124217242631 | gnomAD-4.0.0 | 6.8432E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99467E-07 | 0 | 0 |
| G/R | rs779691555 |
-0.376 | 0.497 | N | 0.572 | 0.093 | 0.409533910539 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 0 | 0 |
| G/R | rs779691555 |
-0.376 | 0.497 | N | 0.572 | 0.093 | 0.409533910539 | gnomAD-4.0.0 | 1.59181E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.88658E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0814 | likely_benign | 0.0819 | benign | -0.377 | Destabilizing | None | N | 0.173 | neutral | N | 0.403230499 | None | None | N |
| G/C | 0.1864 | likely_benign | 0.21 | benign | -0.626 | Destabilizing | 0.909 | D | 0.628 | neutral | None | None | None | None | N |
| G/D | 0.1693 | likely_benign | 0.1721 | benign | -0.757 | Destabilizing | 0.157 | N | 0.511 | neutral | None | None | None | None | N |
| G/E | 0.1191 | likely_benign | 0.0973 | benign | -0.774 | Destabilizing | 0.002 | N | 0.395 | neutral | N | 0.378238841 | None | None | N |
| G/F | 0.5121 | ambiguous | 0.5359 | ambiguous | -0.625 | Destabilizing | 0.726 | D | 0.627 | neutral | None | None | None | None | N |
| G/H | 0.2796 | likely_benign | 0.2798 | benign | -1.112 | Destabilizing | 0.909 | D | 0.585 | neutral | None | None | None | None | N |
| G/I | 0.2178 | likely_benign | 0.2129 | benign | 0.098 | Stabilizing | 0.567 | D | 0.616 | neutral | None | None | None | None | N |
| G/K | 0.1685 | likely_benign | 0.1516 | benign | -1.006 | Destabilizing | 0.157 | N | 0.495 | neutral | None | None | None | None | N |
| G/L | 0.2835 | likely_benign | 0.3027 | benign | 0.098 | Stabilizing | 0.396 | N | 0.551 | neutral | None | None | None | None | N |
| G/M | 0.3001 | likely_benign | 0.3024 | benign | -0.015 | Destabilizing | 0.909 | D | 0.627 | neutral | None | None | None | None | N |
| G/N | 0.2077 | likely_benign | 0.2096 | benign | -0.769 | Destabilizing | 0.396 | N | 0.491 | neutral | None | None | None | None | N |
| G/P | 0.333 | likely_benign | 0.4025 | ambiguous | -0.016 | Destabilizing | 0.567 | D | 0.572 | neutral | None | None | None | None | N |
| G/Q | 0.1903 | likely_benign | 0.1734 | benign | -0.843 | Destabilizing | 0.396 | N | 0.574 | neutral | None | None | None | None | N |
| G/R | 0.1439 | likely_benign | 0.1302 | benign | -0.827 | Destabilizing | 0.497 | N | 0.572 | neutral | N | 0.463086879 | None | None | N |
| G/S | 0.0849 | likely_benign | 0.0883 | benign | -1.046 | Destabilizing | 0.001 | N | 0.331 | neutral | None | None | None | None | N |
| G/T | 0.0972 | likely_benign | 0.0956 | benign | -0.968 | Destabilizing | 0.157 | N | 0.521 | neutral | None | None | None | None | N |
| G/V | 0.1326 | likely_benign | 0.1318 | benign | -0.016 | Destabilizing | 0.331 | N | 0.555 | neutral | N | 0.471778146 | None | None | N |
| G/W | 0.3014 | likely_benign | 0.2938 | benign | -1.117 | Destabilizing | 0.968 | D | 0.627 | neutral | None | None | None | None | N |
| G/Y | 0.3174 | likely_benign | 0.3311 | benign | -0.607 | Destabilizing | 0.726 | D | 0.629 | 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.