Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6590 | 19993;19994;19995 | chr2:178727810;178727809;178727808 | chr2:179592537;179592536;179592535 |
| N2AB | 6273 | 19042;19043;19044 | chr2:178727810;178727809;178727808 | chr2:179592537;179592536;179592535 |
| N2A | 5346 | 16261;16262;16263 | chr2:178727810;178727809;178727808 | chr2:179592537;179592536;179592535 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1296238597  |
-0.825 | 0.005 | N | 0.099 | 0.066 | 0.0806252709748 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| T/A | rs1296238597 |
-0.825 | 0.005 | N | 0.099 | 0.066 | 0.0806252709748 | gnomAD-4.0.0 | 1.59523E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4403E-05 | 0 |
| T/I | rs760473000 |
-0.126 | 0.669 | N | 0.355 | 0.187 | None | gnomAD-2.1.1 | 1.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.57E-05 | 0 |
| T/I | rs760473000 |
-0.126 | 0.669 | N | 0.355 | 0.187 | None | gnomAD-4.0.0 | 4.79518E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.30151E-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 | 0.0708 | likely_benign | 0.0686 | benign | -0.64 | Destabilizing | 0.005 | N | 0.099 | neutral | N | 0.465041388 | None | None | N |
| T/C | 0.4964 | ambiguous | 0.501 | ambiguous | -0.338 | Destabilizing | 0.993 | D | 0.387 | neutral | None | None | None | None | N |
| T/D | 0.3747 | ambiguous | 0.3829 | ambiguous | 0.602 | Stabilizing | 0.842 | D | 0.381 | neutral | None | None | None | None | N |
| T/E | 0.3074 | likely_benign | 0.295 | benign | 0.565 | Stabilizing | 0.842 | D | 0.364 | neutral | None | None | None | None | N |
| T/F | 0.248 | likely_benign | 0.2448 | benign | -0.999 | Destabilizing | 0.949 | D | 0.444 | neutral | None | None | None | None | N |
| T/G | 0.2597 | likely_benign | 0.2746 | benign | -0.818 | Destabilizing | 0.728 | D | 0.383 | neutral | None | None | None | None | N |
| T/H | 0.2766 | likely_benign | 0.2707 | benign | -1.027 | Destabilizing | 0.998 | D | 0.414 | neutral | None | None | None | None | N |
| T/I | 0.1437 | likely_benign | 0.1475 | benign | -0.278 | Destabilizing | 0.669 | D | 0.355 | neutral | N | 0.45904993 | None | None | N |
| T/K | 0.2123 | likely_benign | 0.1965 | benign | -0.264 | Destabilizing | 0.051 | N | 0.241 | neutral | N | 0.486608739 | None | None | N |
| T/L | 0.0933 | likely_benign | 0.0955 | benign | -0.278 | Destabilizing | 0.016 | N | 0.236 | neutral | None | None | None | None | N |
| T/M | 0.0848 | likely_benign | 0.0832 | benign | -0.115 | Destabilizing | 0.949 | D | 0.401 | neutral | None | None | None | None | N |
| T/N | 0.13 | likely_benign | 0.1338 | benign | -0.115 | Destabilizing | 0.949 | D | 0.349 | neutral | None | None | None | None | N |
| T/P | 0.0974 | likely_benign | 0.1085 | benign | -0.368 | Destabilizing | 0.966 | D | 0.411 | neutral | N | 0.496863018 | None | None | N |
| T/Q | 0.2371 | likely_benign | 0.2237 | benign | -0.269 | Destabilizing | 0.949 | D | 0.407 | neutral | None | None | None | None | N |
| T/R | 0.1654 | likely_benign | 0.15 | benign | -0.071 | Destabilizing | 0.876 | D | 0.386 | neutral | N | 0.496113656 | None | None | N |
| T/S | 0.1103 | likely_benign | 0.1122 | benign | -0.463 | Destabilizing | 0.051 | N | 0.206 | neutral | N | 0.434427692 | None | None | N |
| T/V | 0.1098 | likely_benign | 0.1163 | benign | -0.368 | Destabilizing | 0.728 | D | 0.27 | neutral | None | None | None | None | N |
| T/W | 0.5611 | ambiguous | 0.572 | pathogenic | -0.939 | Destabilizing | 0.998 | D | 0.528 | neutral | None | None | None | None | N |
| T/Y | 0.2987 | likely_benign | 0.2993 | benign | -0.67 | Destabilizing | 0.991 | D | 0.433 | 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.