Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19175 | 57748;57749;57750 | chr2:178597559;178597558;178597557 | chr2:179462286;179462285;179462284 |
| N2AB | 17534 | 52825;52826;52827 | chr2:178597559;178597558;178597557 | chr2:179462286;179462285;179462284 |
| N2A | 16607 | 50044;50045;50046 | chr2:178597559;178597558;178597557 | chr2:179462286;179462285;179462284 |
| N2B | 10110 | 30553;30554;30555 | chr2:178597559;178597558;178597557 | chr2:179462286;179462285;179462284 |
| Novex-1 | 10235 | 30928;30929;30930 | chr2:178597559;178597558;178597557 | chr2:179462286;179462285;179462284 |
| Novex-2 | 10302 | 31129;31130;31131 | chr2:178597559;178597558;178597557 | chr2:179462286;179462285;179462284 |
| 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 | rs1450515648  |
0.233 | 0.81 | N | 0.581 | 0.199 | 0.341696514166 | gnomAD-2.1.1 | 8.12E-06 | None | None | None | None | N | None | 0 | 2.93E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| T/I | rs1450515648 |
0.233 | 0.81 | N | 0.581 | 0.199 | 0.341696514166 | gnomAD-4.0.0 | 3.19038E-06 | None | None | None | None | N | None | 0 | 2.29758E-05 | None | 0 | 0 | None | 0 | 0 | 2.86267E-06 | 0 | 0 |
| T/K | rs1450515648 |
-0.118 | 0.379 | N | 0.498 | 0.202 | 0.292062946507 | gnomAD-2.1.1 | 7.2E-06 | None | None | None | None | N | None | 4.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.88E-06 | 0 |
| T/K | rs1450515648 |
-0.118 | 0.379 | N | 0.498 | 0.202 | 0.292062946507 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | rs1450515648 |
-0.118 | 0.379 | N | 0.498 | 0.202 | 0.292062946507 | gnomAD-4.0.0 | 6.57549E-06 | None | None | None | None | N | None | 2.41289E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.1083 | likely_benign | 0.1082 | benign | -0.575 | Destabilizing | 0.001 | N | 0.173 | neutral | N | 0.430009747 | None | None | N |
| T/C | 0.5236 | ambiguous | 0.5234 | ambiguous | -0.346 | Destabilizing | 0.977 | D | 0.56 | neutral | None | None | None | None | N |
| T/D | 0.4534 | ambiguous | 0.4132 | ambiguous | 0.141 | Stabilizing | 0.617 | D | 0.57 | neutral | None | None | None | None | N |
| T/E | 0.401 | ambiguous | 0.3484 | ambiguous | 0.108 | Stabilizing | 0.617 | D | 0.49 | neutral | None | None | None | None | N |
| T/F | 0.3784 | ambiguous | 0.3934 | ambiguous | -0.781 | Destabilizing | 0.92 | D | 0.625 | neutral | None | None | None | None | N |
| T/G | 0.3377 | likely_benign | 0.3437 | ambiguous | -0.788 | Destabilizing | 0.447 | N | 0.526 | neutral | None | None | None | None | N |
| T/H | 0.3181 | likely_benign | 0.3053 | benign | -1.077 | Destabilizing | 0.977 | D | 0.607 | neutral | None | None | None | None | N |
| T/I | 0.2894 | likely_benign | 0.292 | benign | -0.116 | Destabilizing | 0.81 | D | 0.581 | neutral | N | 0.503507428 | None | None | N |
| T/K | 0.3512 | ambiguous | 0.3263 | benign | -0.553 | Destabilizing | 0.379 | N | 0.498 | neutral | N | 0.49274893 | None | None | N |
| T/L | 0.1774 | likely_benign | 0.18 | benign | -0.116 | Destabilizing | 0.447 | N | 0.472 | neutral | None | None | None | None | N |
| T/M | 0.1017 | likely_benign | 0.1053 | benign | 0.091 | Stabilizing | 0.972 | D | 0.57 | neutral | None | None | None | None | N |
| T/N | 0.1173 | likely_benign | 0.1128 | benign | -0.377 | Destabilizing | 0.617 | D | 0.514 | neutral | None | None | None | None | N |
| T/P | 0.3026 | likely_benign | 0.325 | benign | -0.237 | Destabilizing | 0.896 | D | 0.593 | neutral | N | 0.490116843 | None | None | N |
| T/Q | 0.2737 | likely_benign | 0.2539 | benign | -0.563 | Destabilizing | 0.85 | D | 0.597 | neutral | None | None | None | None | N |
| T/R | 0.3022 | likely_benign | 0.285 | benign | -0.318 | Destabilizing | 0.004 | N | 0.344 | neutral | N | 0.479745134 | None | None | N |
| T/S | 0.1255 | likely_benign | 0.1218 | benign | -0.655 | Destabilizing | 0.201 | N | 0.441 | neutral | N | 0.408420967 | None | None | N |
| T/V | 0.193 | likely_benign | 0.1952 | benign | -0.237 | Destabilizing | 0.447 | N | 0.407 | neutral | None | None | None | None | N |
| T/W | 0.7195 | likely_pathogenic | 0.7228 | pathogenic | -0.732 | Destabilizing | 0.992 | D | 0.639 | neutral | None | None | None | None | N |
| T/Y | 0.3535 | ambiguous | 0.3684 | ambiguous | -0.489 | Destabilizing | 0.972 | D | 0.62 | 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.