Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19819 | 59680;59681;59682 | chr2:178592550;178592549;178592548 | chr2:179457277;179457276;179457275 |
| N2AB | 18178 | 54757;54758;54759 | chr2:178592550;178592549;178592548 | chr2:179457277;179457276;179457275 |
| N2A | 17251 | 51976;51977;51978 | chr2:178592550;178592549;178592548 | chr2:179457277;179457276;179457275 |
| N2B | 10754 | 32485;32486;32487 | chr2:178592550;178592549;178592548 | chr2:179457277;179457276;179457275 |
| Novex-1 | 10879 | 32860;32861;32862 | chr2:178592550;178592549;178592548 | chr2:179457277;179457276;179457275 |
| Novex-2 | 10946 | 33061;33062;33063 | chr2:178592550;178592549;178592548 | chr2:179457277;179457276;179457275 |
| 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 | rs758287054  |
0.147 | 0.322 | N | 0.415 | 0.322 | 0.374434639691 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 1.65399E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs758287054 |
0.147 | 0.322 | N | 0.415 | 0.322 | 0.374434639691 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 1.44816E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs758287054 |
0.147 | 0.322 | N | 0.415 | 0.322 | 0.374434639691 | gnomAD-4.0.0 | 4.95871E-06 | None | None | None | None | N | None | 1.06846E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs758287054 |
-1.057 | 0.17 | N | 0.452 | 0.087 | 0.221019684889 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/S | rs758287054 |
-1.057 | 0.17 | N | 0.452 | 0.087 | 0.221019684889 | gnomAD-4.0.0 | 6.84318E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99588E-07 | 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 | 0.1025 | likely_benign | 0.0976 | benign | -0.844 | Destabilizing | 0.76 | D | 0.571 | neutral | N | 0.483997716 | None | None | N |
| T/C | 0.3058 | likely_benign | 0.2702 | benign | -0.558 | Destabilizing | 0.999 | D | 0.667 | neutral | None | None | None | None | N |
| T/D | 0.4816 | ambiguous | 0.4432 | ambiguous | -0.231 | Destabilizing | 0.986 | D | 0.641 | neutral | None | None | None | None | N |
| T/E | 0.3454 | ambiguous | 0.3064 | benign | -0.176 | Destabilizing | 0.986 | D | 0.642 | neutral | None | None | None | None | N |
| T/F | 0.1853 | likely_benign | 0.1603 | benign | -0.744 | Destabilizing | 0.993 | D | 0.718 | prob.delet. | None | None | None | None | N |
| T/G | 0.3204 | likely_benign | 0.3099 | benign | -1.156 | Destabilizing | 0.91 | D | 0.644 | neutral | None | None | None | None | N |
| T/H | 0.2021 | likely_benign | 0.1883 | benign | -1.32 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | None | None | None | None | N |
| T/I | 0.117 | likely_benign | 0.1151 | benign | -0.089 | Destabilizing | 0.322 | N | 0.415 | neutral | N | 0.485202712 | None | None | N |
| T/K | 0.2282 | likely_benign | 0.2077 | benign | -0.713 | Destabilizing | 0.986 | D | 0.642 | neutral | None | None | None | None | N |
| T/L | 0.0992 | likely_benign | 0.0939 | benign | -0.089 | Destabilizing | 0.91 | D | 0.581 | neutral | None | None | None | None | N |
| T/M | 0.0967 | likely_benign | 0.0858 | benign | -0.008 | Destabilizing | 0.998 | D | 0.681 | prob.neutral | None | None | None | None | N |
| T/N | 0.1468 | likely_benign | 0.1326 | benign | -0.811 | Destabilizing | 0.982 | D | 0.565 | neutral | N | 0.49636798 | None | None | N |
| T/P | 0.784 | likely_pathogenic | 0.8252 | pathogenic | -0.307 | Destabilizing | 0.991 | D | 0.68 | prob.neutral | D | 0.535147384 | None | None | N |
| T/Q | 0.223 | likely_benign | 0.2063 | benign | -0.828 | Destabilizing | 0.993 | D | 0.692 | prob.neutral | None | None | None | None | N |
| T/R | 0.1804 | likely_benign | 0.1728 | benign | -0.583 | Destabilizing | 0.986 | D | 0.673 | neutral | None | None | None | None | N |
| T/S | 0.1083 | likely_benign | 0.0981 | benign | -1.102 | Destabilizing | 0.17 | N | 0.452 | neutral | N | 0.462097949 | None | None | N |
| T/V | 0.1131 | likely_benign | 0.1003 | benign | -0.307 | Destabilizing | 0.91 | D | 0.563 | neutral | None | None | None | None | N |
| T/W | 0.4755 | ambiguous | 0.4657 | ambiguous | -0.733 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| T/Y | 0.2382 | likely_benign | 0.2239 | benign | -0.475 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | 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.