Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31265 | 94018;94019;94020 | chr2:178547833;178547832;178547831 | chr2:179412560;179412559;179412558 |
| N2AB | 29624 | 89095;89096;89097 | chr2:178547833;178547832;178547831 | chr2:179412560;179412559;179412558 |
| N2A | 28697 | 86314;86315;86316 | chr2:178547833;178547832;178547831 | chr2:179412560;179412559;179412558 |
| N2B | 22200 | 66823;66824;66825 | chr2:178547833;178547832;178547831 | chr2:179412560;179412559;179412558 |
| Novex-1 | 22325 | 67198;67199;67200 | chr2:178547833;178547832;178547831 | chr2:179412560;179412559;179412558 |
| Novex-2 | 22392 | 67399;67400;67401 | chr2:178547833;178547832;178547831 | chr2:179412560;179412559;179412558 |
| 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 | rs770324266  |
-0.537 | None | N | 0.096 | 0.141 | 0.252162846088 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/A | rs770324266 |
-0.537 | None | N | 0.096 | 0.141 | 0.252162846088 | 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 |
| T/A | rs770324266 |
-0.537 | None | N | 0.096 | 0.141 | 0.252162846088 | gnomAD-4.0.0 | 6.56987E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-05 | 0 | 0 |
| T/I | rs1697844635 |
None | 0.01 | N | 0.346 | 0.144 | 0.326074293725 | gnomAD-4.0.0 | 1.59109E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85778E-06 | 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 | 0.0687 | likely_benign | 0.0649 | benign | -0.513 | Destabilizing | None | N | 0.096 | neutral | N | 0.518706167 | None | None | N |
| T/C | 0.2953 | likely_benign | 0.2879 | benign | -0.164 | Destabilizing | 0.356 | N | 0.377 | neutral | None | None | None | None | N |
| T/D | 0.2853 | likely_benign | 0.2712 | benign | -0.044 | Destabilizing | 0.072 | N | 0.345 | neutral | None | None | None | None | N |
| T/E | 0.1944 | likely_benign | 0.1727 | benign | -0.124 | Destabilizing | 0.016 | N | 0.305 | neutral | None | None | None | None | N |
| T/F | 0.1761 | likely_benign | 0.1697 | benign | -1.06 | Destabilizing | 0.214 | N | 0.473 | neutral | None | None | None | None | N |
| T/G | 0.1958 | likely_benign | 0.2022 | benign | -0.64 | Destabilizing | 0.016 | N | 0.295 | neutral | None | None | None | None | N |
| T/H | 0.1428 | likely_benign | 0.1328 | benign | -1.077 | Destabilizing | 0.356 | N | 0.424 | neutral | None | None | None | None | N |
| T/I | 0.0976 | likely_benign | 0.0962 | benign | -0.294 | Destabilizing | 0.01 | N | 0.346 | neutral | N | 0.501680631 | None | None | N |
| T/K | 0.0973 | likely_benign | 0.0841 | benign | -0.323 | Destabilizing | None | N | 0.133 | neutral | N | 0.432913979 | None | None | N |
| T/L | 0.0778 | likely_benign | 0.0753 | benign | -0.294 | Destabilizing | 0.016 | N | 0.309 | neutral | None | None | None | None | N |
| T/M | 0.0769 | likely_benign | 0.0781 | benign | 0.166 | Stabilizing | 0.214 | N | 0.395 | neutral | None | None | None | None | N |
| T/N | 0.1008 | likely_benign | 0.0995 | benign | -0.093 | Destabilizing | 0.072 | N | 0.178 | neutral | None | None | None | None | N |
| T/P | 0.4394 | ambiguous | 0.4713 | ambiguous | -0.34 | Destabilizing | 0.055 | N | 0.346 | neutral | N | 0.500851431 | None | None | N |
| T/Q | 0.1214 | likely_benign | 0.1136 | benign | -0.418 | Destabilizing | 0.038 | N | 0.354 | neutral | None | None | None | None | N |
| T/R | 0.0936 | likely_benign | 0.0814 | benign | -0.039 | Destabilizing | None | N | 0.191 | neutral | N | 0.481534646 | None | None | N |
| T/S | 0.0912 | likely_benign | 0.0903 | benign | -0.307 | Destabilizing | 0.001 | N | 0.137 | neutral | N | 0.485054953 | None | None | N |
| T/V | 0.0909 | likely_benign | 0.0868 | benign | -0.34 | Destabilizing | None | N | 0.121 | neutral | None | None | None | None | N |
| T/W | 0.4547 | ambiguous | 0.4488 | ambiguous | -1.016 | Destabilizing | 0.864 | D | 0.409 | neutral | None | None | None | None | N |
| T/Y | 0.2087 | likely_benign | 0.1978 | benign | -0.736 | Destabilizing | 0.356 | N | 0.47 | 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.