Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5645 | 17158;17159;17160 | chr2:178731942;178731941;178731940 | chr2:179596669;179596668;179596667 |
| N2AB | 5328 | 16207;16208;16209 | chr2:178731942;178731941;178731940 | chr2:179596669;179596668;179596667 |
| N2A | 4401 | 13426;13427;13428 | chr2:178731942;178731941;178731940 | chr2:179596669;179596668;179596667 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs370889765  |
-0.059 | None | N | 0.278 | 0.164 | None | gnomAD-2.1.1 | 1.47202E-04 | None | None | None | None | N | None | 0 | 0 | None | 1.27028E-03 | 0 | None | 0 | None | 0 | 2.12211E-04 | 1.41523E-04 |
| P/L | rs370889765 |
-0.059 | None | N | 0.278 | 0.164 | None | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 1.1534E-03 | 0 | None | 0 | 0 | 1.17616E-04 | 0 | 0 |
| P/L | rs370889765 |
-0.059 | None | N | 0.278 | 0.164 | None | gnomAD-4.0.0 | 1.00039E-04 | None | None | None | None | N | None | 0 | 1.67118E-05 | None | 9.84319E-04 | 0 | None | 0 | 0 | 1.06239E-04 | 0 | 9.63732E-05 |
| P/T | None | None | 0.012 | N | 0.292 | 0.047 | 0.101711395817 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0763 | likely_benign | 0.0835 | benign | -0.484 | Destabilizing | None | N | 0.111 | neutral | N | 0.512408473 | None | None | N |
| P/C | 0.395 | ambiguous | 0.5096 | ambiguous | -0.65 | Destabilizing | 0.676 | D | 0.442 | neutral | None | None | None | None | N |
| P/D | 0.216 | likely_benign | 0.2451 | benign | -0.537 | Destabilizing | 0.038 | N | 0.319 | neutral | None | None | None | None | N |
| P/E | 0.1992 | likely_benign | 0.2256 | benign | -0.634 | Destabilizing | 0.038 | N | 0.299 | neutral | None | None | None | None | N |
| P/F | 0.4824 | ambiguous | 0.5967 | pathogenic | -0.641 | Destabilizing | 0.214 | N | 0.477 | neutral | None | None | None | None | N |
| P/G | 0.2318 | likely_benign | 0.2644 | benign | -0.625 | Destabilizing | 0.016 | N | 0.344 | neutral | None | None | None | None | N |
| P/H | 0.1679 | likely_benign | 0.2146 | benign | -0.169 | Destabilizing | 0.356 | N | 0.427 | neutral | None | None | None | None | N |
| P/I | 0.3358 | likely_benign | 0.4413 | ambiguous | -0.251 | Destabilizing | 0.038 | N | 0.481 | neutral | None | None | None | None | N |
| P/K | 0.2764 | likely_benign | 0.3561 | ambiguous | -0.578 | Destabilizing | 0.038 | N | 0.301 | neutral | None | None | None | None | N |
| P/L | 0.1589 | likely_benign | 0.2037 | benign | -0.251 | Destabilizing | None | N | 0.278 | neutral | N | 0.493996071 | None | None | N |
| P/M | 0.2947 | likely_benign | 0.3717 | ambiguous | -0.44 | Destabilizing | 0.214 | N | 0.435 | neutral | None | None | None | None | N |
| P/N | 0.1717 | likely_benign | 0.2177 | benign | -0.336 | Destabilizing | None | N | 0.284 | neutral | None | None | None | None | N |
| P/Q | 0.142 | likely_benign | 0.17 | benign | -0.561 | Destabilizing | 0.171 | N | 0.447 | neutral | N | 0.464085905 | None | None | N |
| P/R | 0.204 | likely_benign | 0.2618 | benign | -0.053 | Destabilizing | 0.171 | N | 0.493 | neutral | N | 0.512581832 | None | None | N |
| P/S | 0.0946 | likely_benign | 0.1089 | benign | -0.647 | Destabilizing | None | N | 0.108 | neutral | N | 0.428443082 | None | None | N |
| P/T | 0.099 | likely_benign | 0.116 | benign | -0.647 | Destabilizing | 0.012 | N | 0.292 | neutral | N | 0.488011461 | None | None | N |
| P/V | 0.224 | likely_benign | 0.2841 | benign | -0.295 | Destabilizing | 0.038 | N | 0.36 | neutral | None | None | None | None | N |
| P/W | 0.5949 | likely_pathogenic | 0.6959 | pathogenic | -0.744 | Destabilizing | 0.864 | D | 0.516 | neutral | None | None | None | None | N |
| P/Y | 0.367 | ambiguous | 0.4807 | ambiguous | -0.454 | Destabilizing | 0.356 | N | 0.474 | 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.