Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5622 | 17089;17090;17091 | chr2:178732105;178732104;178732103 | chr2:179596832;179596831;179596830 |
| N2AB | 5305 | 16138;16139;16140 | chr2:178732105;178732104;178732103 | chr2:179596832;179596831;179596830 |
| N2A | 4378 | 13357;13358;13359 | chr2:178732105;178732104;178732103 | chr2:179596832;179596831;179596830 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | rs1212075565  |
0.051 | 0.998 | N | 0.65 | 0.419 | 0.394230963961 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66556E-04 |
| A/S | rs1212075565 |
0.051 | 0.998 | N | 0.65 | 0.419 | 0.394230963961 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92604E-04 | None | 9.43E-05 | 0 | 0 | 0 | 0 |
| A/S | rs1212075565 |
0.051 | 0.998 | N | 0.65 | 0.419 | 0.394230963961 | gnomAD-4.0.0 | 6.8213E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.22896E-05 | None | 1.40665E-04 | 0 | 8.48163E-07 | 0 | 0 |
| A/V | None | None | 0.884 | N | 0.491 | 0.271 | 0.392239652056 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.745 | likely_pathogenic | 0.6924 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| A/D | 0.7708 | likely_pathogenic | 0.6459 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | D | 0.530667613 | None | None | I |
| A/E | 0.7289 | likely_pathogenic | 0.6027 | pathogenic | -0.624 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| A/F | 0.4073 | ambiguous | 0.3515 | ambiguous | -0.902 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| A/G | 0.2763 | likely_benign | 0.249 | benign | -0.185 | Destabilizing | 0.999 | D | 0.65 | neutral | N | 0.503952077 | None | None | I |
| A/H | 0.8102 | likely_pathogenic | 0.7565 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| A/I | 0.449 | ambiguous | 0.3368 | benign | -0.398 | Destabilizing | 0.994 | D | 0.643 | neutral | None | None | None | None | I |
| A/K | 0.9206 | likely_pathogenic | 0.8643 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| A/L | 0.4658 | ambiguous | 0.3686 | ambiguous | -0.398 | Destabilizing | 0.994 | D | 0.578 | neutral | None | None | None | None | I |
| A/M | 0.4543 | ambiguous | 0.3759 | ambiguous | -0.503 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| A/N | 0.679 | likely_pathogenic | 0.5769 | pathogenic | -0.181 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| A/P | 0.9276 | likely_pathogenic | 0.8777 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | D | 0.553544808 | None | None | I |
| A/Q | 0.7972 | likely_pathogenic | 0.7195 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| A/R | 0.852 | likely_pathogenic | 0.783 | pathogenic | -0.032 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| A/S | 0.1694 | likely_benign | 0.1494 | benign | -0.362 | Destabilizing | 0.998 | D | 0.65 | neutral | N | 0.503445098 | None | None | I |
| A/T | 0.2804 | likely_benign | 0.1995 | benign | -0.442 | Destabilizing | 0.996 | D | 0.676 | prob.neutral | N | 0.520788884 | None | None | I |
| A/V | 0.1908 | likely_benign | 0.1431 | benign | -0.305 | Destabilizing | 0.884 | D | 0.491 | neutral | N | 0.487497826 | None | None | I |
| A/W | 0.8674 | likely_pathogenic | 0.8363 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| A/Y | 0.6425 | likely_pathogenic | 0.5942 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
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.