Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14842 | 44749;44750;44751 | chr2:178625297;178625296;178625295 | chr2:179490024;179490023;179490022 |
| N2AB | 13201 | 39826;39827;39828 | chr2:178625297;178625296;178625295 | chr2:179490024;179490023;179490022 |
| N2A | 12274 | 37045;37046;37047 | chr2:178625297;178625296;178625295 | chr2:179490024;179490023;179490022 |
| N2B | 5777 | 17554;17555;17556 | chr2:178625297;178625296;178625295 | chr2:179490024;179490023;179490022 |
| Novex-1 | 5902 | 17929;17930;17931 | chr2:178625297;178625296;178625295 | chr2:179490024;179490023;179490022 |
| Novex-2 | 5969 | 18130;18131;18132 | chr2:178625297;178625296;178625295 | chr2:179490024;179490023;179490022 |
| 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/I | rs370782364  |
0.247 | 0.992 | D | 0.589 | 0.454 | None | gnomAD-2.1.1 | 1.45E-05 | None | None | None | None | N | None | 1.26167E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.89E-06 | 0 |
| T/I | rs370782364 |
0.247 | 0.992 | D | 0.589 | 0.454 | None | gnomAD-4.0.0 | 4.81056E-06 | None | None | None | None | N | None | 1.21389E-04 | 0 | None | 0 | 2.54466E-05 | None | 0 | 0 | 1.80375E-06 | 0 | 0 |
| T/S | rs763625555 |
-1.422 | 0.998 | N | 0.485 | 0.242 | 0.115124310173 | gnomAD-2.1.1 | 3.27E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.67594E-04 | None | 0 | 0 | 0 |
| T/S | rs763625555 |
-1.422 | 0.998 | N | 0.485 | 0.242 | 0.115124310173 | gnomAD-4.0.0 | 2.0879E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.73984E-04 | 3.04841E-05 |
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 | 0.2458 | likely_benign | 0.2584 | benign | -0.777 | Destabilizing | 0.996 | D | 0.461 | neutral | N | 0.43060397 | None | None | N |
| T/C | 0.7011 | likely_pathogenic | 0.7042 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| T/D | 0.8731 | likely_pathogenic | 0.8806 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| T/E | 0.8271 | likely_pathogenic | 0.8229 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| T/F | 0.7091 | likely_pathogenic | 0.7422 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| T/G | 0.5972 | likely_pathogenic | 0.5955 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| T/H | 0.7539 | likely_pathogenic | 0.7634 | pathogenic | -1.359 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| T/I | 0.5134 | ambiguous | 0.5542 | ambiguous | 0.33 | Stabilizing | 0.992 | D | 0.589 | neutral | D | 0.570036566 | None | None | N |
| T/K | 0.7841 | likely_pathogenic | 0.8195 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| T/L | 0.3422 | ambiguous | 0.395 | ambiguous | 0.33 | Stabilizing | 0.994 | D | 0.495 | neutral | None | None | None | None | N |
| T/M | 0.2214 | likely_benign | 0.2634 | benign | 0.223 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| T/N | 0.4477 | ambiguous | 0.4906 | ambiguous | -1.165 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | D | 0.530603234 | None | None | N |
| T/P | 0.7852 | likely_pathogenic | 0.8368 | pathogenic | -0.007 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.507817502 | None | None | N |
| T/Q | 0.7058 | likely_pathogenic | 0.7283 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| T/R | 0.7368 | likely_pathogenic | 0.7726 | pathogenic | -0.742 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| T/S | 0.2553 | likely_benign | 0.2553 | benign | -1.344 | Destabilizing | 0.998 | D | 0.485 | neutral | N | 0.438116937 | None | None | N |
| T/V | 0.3969 | ambiguous | 0.4113 | ambiguous | -0.007 | Destabilizing | 0.813 | D | 0.357 | neutral | None | None | None | None | N |
| T/W | 0.9318 | likely_pathogenic | 0.9396 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| T/Y | 0.7212 | likely_pathogenic | 0.7623 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.813 | deleterious | 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.